Sequence of 3BHS7_HUMAN

cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase

Q9H2F3

369

41016

509413

Schwarz M.,Wright A.C.,Davis D.L.,Nazer H.,Bjorkhem I.,Russell D.W.

The bile acid synthetic gene 3beta-hydroxy-delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis.

J. Clin. Invest.

106

1175-1184

2000

509414

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

509415

Martin J.,Han C.,Gordon L.A.,Terry A.,Prabhakar S.,She X.,Xie G.,Hellsten U.,Chan Y.M.,Altherr M.,Couronne O.,Aerts A.,Bajorek E.,Black S.,Blumer H.,Branscomb E.,Brown N.C.,Bruno W.J.,Buckingham J.M.,Callen D.F.,Campbell C.S.,Campbell M.L.,Campbell E.W.,Caoile C.,Challacombe J.F.,Chasteen L.A.,Chertkov O.,Chi H.C.,Christensen M.,Clark L.M.,Cohn J.D.,Denys M.,Detter J.C.,Dickson M.,Dimitrijevic-Bussod M.,Escobar J.,Fawcett J.J.,Flowers D.,Fotopulos D.,Glavina T.,Gomez M.,Gonzales E.,Goodstein D.,Goodwin L.A.,Grady D.L.,Grigoriev I.,Groza M.,Hammon N.,Hawkins T.,Haydu L.,Hildebrand C.E.,Huang W.,Israni S.,Jett J.,Jewett P.B.,Kadner K.,Kimball H.,Kobayashi A.,Krawczyk M.-C.,Leyba T.,Longmire J.L.,Lopez F.,Lou Y.,Lowry S.,Ludeman T.,Manohar C.F.,Mark G.A.,McMurray K.L.,Meincke L.J.,Morgan J.,Moyzis R.K.,Mundt M.O.,Munk A.C.,Nandkeshwar R.D.,Pitluck S.,Pollard M.,Predki P.,Parson-Quintana B.,Ramirez L.,Rash S.,Retterer J.,Ricke D.O.,Robinson D.L.,Rodriguez A.,Salamov A.,Saunders E.H.,Scott D.,Shough T.,Stallings R.L.,Stalvey M.,Sutherland R.D.,Tapia R.,Tesmer J.G.,Thayer N.,Thompson L.S.,Tice H.,Torney D.C.,Tran-Gyamfi M.,Tsai M.,Ulanovsky L.E.,Ustaszewska A.,Vo N.,White P.S.,Williams A.L.,Wills P.L.,Wu J.-R.,Wu K.,Yang J.,DeJong P.,Bruce D.,Doggett N.A.,Deaven L.,Schmutz J.,Grimwood J.,Richardson P.,Rokhsar D.S.,Eichler E.E.,Gilna P.,Lucas S.M.,Myers R.M.,Rubin E.M.,Pennacchio L.A.

The sequence and analysis of duplication-rich human chromosome 16.

Nature

432

988-994

2004

509417

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

509418

Cheng J.B.,Jacquemin E.,Gerhardt M.,Nazer H.,Cresteil D.,Heubi J.E.,Setchell K.D.,Russell D.W.

Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease.

J. Clin. Endocrinol. Metab.

88

1833-1841

2003