Gene: [12p13/F8VWF] coagulation factor VIII VWF (von Willebrand factor); von Willebrand pseudohemophilia (coagulation factor VIII VWF deficiency; also MIM:277480); [VWF ]

GEN

Exons: 52.

REL

GEM:0Xq28/F8C.

REF

PRO,SEQ,EVO "Assouline Z &: BBRC, 153, N3, 1159-1166, 1988
PRO,SEQ,EVO "Collins CJ &: PNAS, 84, N13, 4393-4397, 1987
MUT "Cooney KA &: J Clin Invest, 87, N4, 1227-1233, 1991
MUT "Donner M &: Brit J Haematol, 82, N1, 58-65, 1992
MUT "Gaucher C &: Brit J Haematol, 83, N1, 94-99, 1993
MUT,REV "Ginsburg D, Sadler JE: Thromb Haemost, 69, 177-184, 1993
MUT "Hagiwara T &: Thromb Haemost, 76, 253-257, 1996
MUT "Iannuzzi MC &: AJHG, 48, 757-763, 1991
MUT "Lavergne J-M &: Brit J Haematol, 82, N1, 66-72, 1992
POL,MOL "Lavergne J-M &: NAR, 15, N21, 9099, 1987
CLO,SEQ,STR "Mancuso DJ &: JBC, 264, 19514-19527, 1989
REV "Ruggeri ZM: J Clin Invest, 99, 559-564, 1997
REV,POL "Sadler JE, Ginsburg D: Thromb Haemost, 69, 185-191, 1993
PRO,SEQ,EVO "Sadler JE &: Cold Spring Harbor Symp, 51, 515-523, 1986
MUT "Schneppenheim R &: PNAS, 93, N8, 3581-3586, 1996
PAT,MUT "Schneppenheim R &: Hum Genet, 95, N6, 681-686, 1995
PRO,COD,LOC "Verweij &: CCG, 40, (HGM8), 771, 1985

SWI

 SWISSPROT: P04275

KEY

hem, clot

CLA

coding, basic

LOC

12 p13.3-.2

MIM

 MIM: 193400

SYN

VWF

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