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Sequence of PPBT_HUMAN

EC Number:3.1.3.1

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
alkaline phosphatase
P05186
Homo sapiens
524
57305
Reaction
a phosphate monoester + H2O = an alcohol + phosphate

General information:

Sequence
show sequence in fasta format
  0 MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
 60 GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
120 VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
180 SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
240 KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
300 RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
360 QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
420 YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
480 PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
344475
Weiss M.J.,Henthorn P.S.,Lafferty M.A.,Slaughter C.,Raducha M.,Harris H.
Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase.
Proc. Natl. Acad. Sci. U.S.A.
83
7182-7186
1986
344476
Weiss M.J.,Ray K.,Henthorn P.S.,Lamb B.,Kadesch T.,Harris H.
Structure of the human liver/bone/kidney alkaline phosphatase gene.
J. Biol. Chem.
263
12002-12010
1988
344477
Kishi F.,Matsuura S.,Kajii T.
Nucleotide sequence of the human liver-type alkaline phosphatase cDNA.
Nucleic Acids Res.
17
2129-2129
1989
344478
Sugimoto N.,Iwamoto S.,Hoshino Y.,Kajii E.
A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.
J. Hum. Genet.
43
160-164
1998
344479
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
344481
Gregory S.G.,Barlow K.F.,McLay K.E.,Kaul R.,Swarbreck D.,Dunham A.,Scott C.E.,Howe K.L.,Woodfine K.,Spencer C.C.A.,Jones M.C.,Gillson C.,Searle S.,Zhou Y.,Kokocinski F.,McDonald L.,Evans R.,Phillips K.,Atkinson A.,Cooper R.,Jones C.,Hall R.E.,Andrews T.D.,Lloyd C.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Anderson F.,Andrew R.W.,Ashwell R.I.S.,Aubin K.,Babbage A.K.,Bagguley C.L.,Bailey J.,Beasley H.,Bethel G.,Bird C.P.,Bray-Allen S.,Brown J.Y.,Brown A.J.,Buckley D.,Burton J.,Bye J.,Carder C.,Chapman J.C.,Clark S.Y.,Clarke G.,Clee C.,Cobley V.,Collier R.E.,Corby N.,Coville G.J.,Davies J.,Deadman R.,Dunn M.,Earthrowl M.,Ellington A.G.,Errington H.,Frankish A.,Frankland J.,French L.,Garner P.,Garnett J.,Gay L.,Ghori M.R.J.,Gibson R.,Gilby L.M.,Gillett W.,Glithero R.J.,Grafham D.V.,Griffiths C.,Griffiths-Jones S.,Grocock R.,Hammond S.,Harrison E.S.I.,Hart E.,Haugen E.,Heath P.D.,Holmes S.,Holt K.,Howden P.J.,Hunt A.R.,Hunt S.E.,Hunter G.,Isherwood J.,James R.,Johnson C.,Johnson D.,Joy A.,Kay M.,Kershaw J.K.,Kibukawa M.,Kimberley A.M.,King A.,Knights A.J.,Lad H.,Laird G.,Lawlor S.,Leongamornlert D.A.,Lloyd D.M.,Loveland J.,Lovell J.,Lush M.J.,Lyne R.,Martin S.,Mashreghi-Mohammadi M.,Matthews L.,Matthews N.S.W.,McLaren S.,Milne S.,Mistry S.,Moore M.J.F.,Nickerson T.,O'Dell C.N.,Oliver K.,Palmeiri A.,Palmer S.A.,Parker A.,Patel D.,Pearce A.V.,Peck A.I.,Pelan S.,Phelps K.,Phillimore B.J.,Plumb R.,Rajan J.,Raymond C.,Rouse G.,Saenphimmachak C.,Sehra H.K.,Sheridan E.,Shownkeen R.,Sims S.,Skuce C.D.,Smith M.,Steward C.,Subramanian S.,Sycamore N.,Tracey A.,Tromans A.,Van Helmond Z.,Wall M.,Wallis J.M.,White S.,Whitehead S.L.,Wilkinson J.E.,Willey D.L.,Williams H.,Wilming L.,Wray P.W.,Wu Z.,Coulson A.,Vaudin M.,Sulston J.E.,Durbin R.M.,Hubbard T.,Wooster R.,Dunham I.,Carter N.P.,McVean G.,Ross M.T.,Harrow J.,Olson M.V.,Beck S.,Rogers J.,Bentley D.R.
The DNA sequence and biological annotation of human chromosome 1.
Nature
441
315-321
2006
344483
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
344484
Garattini E.,Hua J.-C.,Pan Y.C.E.,Udenfriend S.
Human liver alkaline phosphatase, purification and partial sequencing: homology with the placental isozyme.
Arch. Biochem. Biophys.
245
331-337
1986
344485
Nishihara Y.,Hayashi Y.,Adachi T.,Koyama I.,Stigbrand T.,Hirano K.
Chemical nature of intestinal-type alkaline phosphatase in human kidney.
Clin. Chem.
38
2539-2542
1992
344486
Fedde K.N.,Whyte M.P.
Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.
Am. J. Hum. Genet.
47
767-775
1990
344487
Mornet E.,Stura E.,Lia-Baldini A.S.,Stigbrand T.,Menez A.,Le Du M.H.
Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization.
J. Biol. Chem.
276
31171-31178
2001
344488
Omaetxebarria M.J.,Elortza F.,Rodriguez-Suarez E.,Aloria K.,Arizmendi J.M.,Jensen O.N.,Matthiesen R.
Computational approach for identification and characterization of GPI-anchored peptides in proteomics experiments.
Proteomics
7
1951-1960
2007
344489
Chen R.,Jiang X.,Sun D.,Han G.,Wang F.,Ye M.,Wang L.,Zou H.
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
J. Proteome Res.
8
651-661
2009
344490
Rigbolt K.T.,Prokhorova T.A.,Akimov V.,Henningsen J.,Johansen P.T.,Kratchmarova I.,Kassem M.,Mann M.,Olsen J.V.,Blagoev B.
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
Sci. Signal.
4
RS3-RS3
2011
344491
Hoylaerts M.F.,Van Kerckhoven S.,Kiffer-Moreira T.,Sheen C.,Narisawa S.,Millan J.L.
Functional significance of calcium binding to tissue-nonspecific alkaline phosphatase.
PLoS ONE
10
e0119874-e0119874
2015
344492
Balasubramaniam S.,Bowling F.,Carpenter K.,Earl J.,Chaitow J.,Pitt J.,Mornet E.,Sillence D.,Ellaway C.
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.
J. Inherit. Metab. Dis.
33
S25-S33
2010
344493
Pettengill M.,Matute J.D.,Tresenriter M.,Hibbert J.,Burgner D.,Richmond P.,Millan J.L.,Ozonoff A.,Strunk T.,Currie A.,Levy O.
Human alkaline phosphatase dephosphorylates microbial products and is elevated in preterm neonates with a history of late-onset sepsis.
PLoS ONE
12
e0175936-e0175936
2017
344494
Weiss M.J.,Cole D.E.C.,Ray K.,Whyte M.P.,Lafferty M.A.,Mulivor R.A.,Harris H.
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.
Proc. Natl. Acad. Sci. U.S.A.
85
7666-7669
1988
344495
Henthorn P.S.,Raducha M.,Fedde K.N.,Lafferty M.A.,Whyte M.P.
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Proc. Natl. Acad. Sci. U.S.A.
89
9924-9928
1992
344496
Greenberg C.R.,Taylor C.L.,Haworth J.C.,Seargeant L.E.,Philipps S.,Triggs-Raine B.,Chodirker B.N.
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.
Genomics
17
215-217
1993
344497
Orimo H.,Hayashi Z.,Watanabe A.,Hirayama T.,Hirayama T.,Shimada T.
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.
Hum. Mol. Genet.
3
1683-1684
1994
344498
Ozono K.,Yamagata M.,Michigami T.,Nakajima S.,Sakai N.,Cai G.,Satomura K.,Yasui N.,Okada S.,Nakayama M.
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
J. Clin. Endocrinol. Metab.
81
4458-4461
1996
344499
Mornet E.,Taillandier A.,Peyramaure S.,Kaper F.,Muller F.,Brenner R.,Bussiere P.,Freisinger P.,Godard J.,Le Merrer M.,Oury J.F.,Plauchu H.,Puddu R.,Rival J.M.,Superti-Furga A.,Touraine R.L.,Serre J.L.,Simon-Bouy B.
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Eur. J. Hum. Genet.
6
308-314
1998
344500
Goseki-Sone M.,Orimo H.,Iimura T.,Takagi Y.,Watanabe H.,Taketa K.,Sato S.,Mayanagi H.,Shimada T.,Oida S.
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.
Hum. Mutat. Suppl.
1
S263-S267
1998
344501
Zurutuza L.,Muller F.,Gibrat J.F.,Taillandier A.,Simon-Bouy B.,Serre J.L.,Mornet E.
Correlations of genotype and phenotype in hypophosphatasia.
Hum. Mol. Genet.
8
1039-1046
1999
344502
Taillandier A.,Zurutuza L.,Muller F.,Simon-Bouy B.,Serre J.L.,Bird L.,Brenner R.,Boute O.,Cousin J.,Gaillard D.,Heidemann P.H.,Steinmann B.,Wallot M.,Mornet E.
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia.
Hum. Mutat.
13
171-172
1999
344503
Mochizuki H.,Saito M.,Michigami T.,Ohashi H.,Koda N.,Yamaguchi S.,Ozono K.
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.
Eur. J. Pediatr.
159
375-379
2000
344504
Taillandier A.,Cozien E.,Muller F.,Merrien Y.,Bonnin E.,Fribourg C.,Simon-Bouy B.,Serre J.L.,Bieth E.,Brenner R.,Cordier M.P.,De Bie S.,Fellmann F.,Freisinger P.,Hesse V.,Hennekam R.C.M.,Josifova D.,Kerzin-Storrar L.,Leporrier N.,Zabot M.-T.,Mornet E.
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
Hum. Mutat.
15
293-293
2000
344505
Mueller H.L.,Yamazaki M.,Michigami T.,Kageyama T.,Schoenau E.,Schneider P.,Ozono K.
Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
J. Clin. Endocrinol. Metab.
85
743-747
2000
344506
Sergi C.,Mornet E.,Troeger J.,Voigtlaender T.
Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Am. J. Med. Genet.
103
235-240
2001
344507
Lia-Baldini A.S.,Muller F.,Taillandier A.,Gibrat J.F.,Mouchard M.,Robin B.,Simon-Bouy B.,Serre J.L.,Aylsworth A.S.,Bieth E.,Delanote S.,Freisinger P.,Hu J.C.-C.,Krohn H.-P.,Nunes M.E.,Mornet E.
A molecular approach to dominance in hypophosphatasia.
Hum. Genet.
109
99-108
2001
344508
Taillandier A.,Lia-Baldini A.S.,Mouchard M.,Robin B.,Muller F.,Simon-Bouy B.,Serre J.L.,Bera-Louville A.,Bonduelle M.,Eckhardt J.,Gaillard D.,Myhre A.G.,Koertge-Jung S.,Larget-Piet L.,Malou E.,Sillence D.,Temple I.K.,Viot G.,Mornet E.
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.
Hum. Mutat.
18
83-84
2001
344509
Orimo H.,Girschick H.J.,Goseki-Sone M.,Ito M.,Oda K.,Shimada T.
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
J. Bone Miner. Res.
16
2313-2319
2001
344510
Watanabe H.,Hashimoto-Uoshima M.,Goseki-Sone M.,Orimo H.,Ishikawa I.
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.
Oral Dis.
7
331-335
2001
344511
Di Mauro S.,Manes T.,Hessle L.,Kozlenkov A.,Pizauro J.M.,Hoylaerts M.F.,Millan J.L.
Kinetic characterization of hypophosphatasia mutations with physiological substrates.
J. Bone Miner. Res.
17
1383-1391
2002
344512
Litmanovitz I.,Reish O.,Dolfin T.,Arnon S.,Regev R.,Grinshpan G.,Yamazaki M.,Ozono K.
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
J. Inherit. Metab. Dis.
25
35-40
2002
344513
Mumm S.,Jones J.,Finnegan P.,Henthorn P.S.,Podgornik M.N.,Whyte M.P.
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
Mol. Genet. Metab.
75
143-153
2002
344514
Souka A.P.,Raymond F.L.,Mornet E.,Geerts L.,Nicolaides K.H.
Hypophosphatasia associated with increased nuchal translucency: a report of two affected pregnancies.
Ultrasound Obstet. Gynecol.
20
294-295
2002
344515
Spentchian M.,Merrien Y.,Herasse M.,Dobbie Z.,Glaeser D.,Holder S.E.,Ivarsson S.-A.,Kostiner D.,Mansour S.,Norman A.,Roth J.,Stipoljev F.,Taillemite J.-L.,van der Smagt J.J.,Serre J.-L.,Simon-Bouy B.,Taillandier A.,Mornet E.
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Hum. Mutat.
22
105-106
2003
344516
Herasse M.,Spentchian M.,Taillandier A.,Keppler-Noreuil K.,Fliorito A.N.M.,Bergoffen J.,Wallerstein R.,Muti C.,Simon-Bouy B.,Mornet E.
Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.
J. Med. Genet.
40
605-609
2003
344517
Draguet C.,Gillerot Y.,Mornet E.
Childhood hypophosphatasia: a case report due to a novel mutation.
Arch. Pediatr.
11
440-443
2004
344518
Brun-Heath I.,Taillandier A.,Serre J.-L.,Mornet E.
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
Mol. Genet. Metab.
84
273-277
2005
344519
Fauvert D.,Brun-Heath I.,Lia-Baldini A.S.,Bellazi L.,Taillandier A.,Serre J.L.,de Mazancourt P.,Mornet E.
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
BMC Med. Genet.
10
51-51
2009
344520
Satou Y.,Al-Shawafi H.A.,Sultana S.,Makita S.,Sohda M.,Oda K.
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.
Biochim. Biophys. Acta
1822
581-588
2012
344521
Makita S.,Al-Shawafi H.A.,Sultana S.,Sohda M.,Nomura S.,Oda K.
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
FEBS J.
279
4327-4337
2012
344522
Martins L.,Rodrigues T.L.,Ribeiro M.M.,Saito M.T.,Giorgetti A.P.,Casati M.Z.,Sallum E.A.,Foster B.L.,Somerman M.J.,Nociti F.H. Jr.
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Bone
56
390-397
2013
344523
Sultana S.,Al-Shawafi H.A.,Makita S.,Sohda M.,Amizuka N.,Takagi R.,Oda K.
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
Mol. Genet. Metab.
109
282-288
2013
344524
Numa-Kinjoh N.,Komaru K.,Ishida Y.,Sohda M.,Oda K.
Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
Mol. Genet. Metab.
115
180-185
2015
344525
Oyachi M.,Harada D.,Sakamoto N.,Ueyama K.,Kondo K.,Kishimoto K.,Izui M.,Nagamatsu Y.,Kashiwagi H.,Yamamuro M.,Tamura M.,Kikuchi S.,Akiyama T.,Michigami T.,Seino Y.,Namba N.
A case of perinatal hypophosphatasia with a novel mutation in the ALPL gene: clinical course and review of the literature.
Clin. Pediatr. Endocrinol.
27
179-186
2018
344526
Bisgin A.,Boga I.,Cetin C.,Buyukkurt S.
Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia.
Clin. Case Rep.
8
1719-1721
2020
344527
Kato M.,Michigami T.,Tachikawa K.,Kato M.,Yabe I.,Shimizu T.,Asaka T.,Kitagawa Y.,Atsumi T.
Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
J. Bone Miner. Metab.
39
804-809
2021