A point mutation in glycoprotein IX coding sequence (Cys73(TGT) to Tyr(TAT)) causes impaired surface expression of GPIb/IX/V complex in two families with Bernard-Soulier syndrome

Thrombosis and Haemostasis

Volumn 76, Issue 6, 1996, Pages 874-878

  Noda, Masaaki ^a   Fujimura, Kingo ^a   Takafuta, Toshiro ^a   Shimomura, Takeshi ^a   Fujii, Teruhisa ^a   Katsutani, Shinya ^a   Fujimoto, Tetsuro ^a   Kuramoto, Atsushi ^a   Yamazaki, Tomio ^b   Mochizuki, Toshihiro ^c   Matsuzaki, Miwako ^d   Sano, Masayuki ^d  

^a HIROSHIMA UNIVERSITY   (Japan)

^b NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c SHIZUOKA CITY SHIMIZU HOSPITAL   (Japan)

^d SAGA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; CYSTEINE; GLYCOPROTEIN; GLYCOPROTEIN IB; RECEPTOR; TYROSINE; VON WILLEBRAND FACTOR;

ADULT; ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; FAMILY STUDY; FEMALE; HUMAN; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN EXPRESSION; PROTEIN STRUCTURE;

ADULT; BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; CYSTEINE; FEMALE; HUMANS; MALE; MIDDLE AGED; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; POINT MUTATION; TYROSINE;

EID: 0030456452     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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