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David D.,Moreira I.,Morais S.,de Deus G.

Five novel factor IX mutations in unrelated hemophilia B patients.

Hum. Mutat. Suppl.

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1998

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Heit J.A.,Thorland E.C.,Ketterling R.P.,Lind T.J.,Daniels T.M.,Zapata R.E.,Ordonez S.M.,Kasper C.K.,Sommer S.S.

Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in Amerindians is similar to the putative endogenous germline pattern.

Hum. Mutat.

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1998

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Wulff K.,Bykowska K.,Lopaciuk S.,Herrmann F.H.

Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.

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1999

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Montejo J.M.,Magallon M.,Tizzano E.,Solera J.

Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.

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1999

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Cargill M.,Altshuler D.,Ireland J.,Sklar P.,Ardlie K.,Patil N.,Shaw N.,Lane C.R.,Lim E.P.,Kalyanaraman N.,Nemesh J.,Ziaugra L.,Friedland L.,Rolfe A.,Warrington J.,Lipshutz R.,Daley G.Q.,Lander E.S.

Characterization of single-nucleotide polymorphisms in coding regions of human genes.

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1999

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Vidal F.,Farssac E.,Altisent C.,Puig L.,Gallardo D.

Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.

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Onay U.V.,Kavakli K.,Kilinc Y.,Gurgey A.,Aktuglu G.,Kemahli S.,Ozbek U.,Caglayan S.H.

Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations.

Br. J. Haematol.

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2003

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Espinos C.,Casana P.,Haya S.,Cid A.R.,Aznar J.A.

Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene.

Haematologica

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2003

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Simioni P.,Tormene D.,Tognin G.,Gavasso S.,Bulato C.,Iacobelli N.P.,Finn J.D.,Spiezia L.,Radu C.,Arruda V.R.

X-linked thrombophilia with a mutant factor IX (factor IX Padua).

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Saini S.,Hamasaki-Katagiri N.,Pandey G.S.,Yanover C.,Guelcher C.,Simhadri V.L.,Dandekar S.,Guerrera M.F.,Kimchi-Sarfaty C.,Sauna Z.E.

Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

Haemophilia

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2015

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Guo Z.P.,Yang L.H.,Qin X.Y.,Liu X.E.,Chen J.F.,Zhang Y.F.

Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.

Haemophilia

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2014

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Pezeshkpoor B.,Czogalla K.J.,Caspers M.,Berkemeier A.C.,Liphardt K.,Ghosh S.,Kellner M.,Ulrich S.,Pavlova A.,Oldenburg J.

Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations.

Ann. Hematol.

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2018