Recurrent mutation Trp126 → stop of glycoprotein IX in Japanese Bernard-Soulier syndrome

Platelets

Volumn 14, Issue 3, 2003, Pages 197-198

  Toyohama, Tamiko ^a   Nagasaki, Akitoshi ^a   Gushi, Kazuo ^b   Tamaki, Kazumitsu ^c   Masuda, Masato ^a   Takasu, Nobuyuki ^a  

^a UNIVERSITY OF THE RYUKYUS   (Japan)

^b Tomishiro Chuo Hospital   (Japan)

^c Okinawa Prefectural Chubu Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; GLYCOPROTEIN; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IX; IMMUNOGLOBULIN; RESTRICTION ENDONUCLEASE; TRYPTOPHAN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BERNARD SOULIER DISEASE; CARBOXY TERMINAL SEQUENCE; CLINICAL FEATURE; DNA SEQUENCE; FAMILY HISTORY; FLOW CYTOMETRY; GENE EXPRESSION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; JAPAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SPLENECTOMY; STOP CODON; TANDEM REPEAT; THROMBOCYTE MEMBRANE; TREATMENT FAILURE;

ADULT; BERNARD-SOULIER SYNDROME; CHILD; CODON; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; HUMANS; JAPAN; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX;

PURPURA;

EID: 0038288918     PISSN: 09537104     EISSN: None     Source Type: Journal    
DOI: 10.1080/0953710031000092848     Document Type: Article

References (5)

1. López J A, Andrew R K, Afshar-Kharghan V, Berndt M C. Bernard-Soulier Syndrome. Blood 1998; 91: 4397-418.
2. López J A, Ludwig E H, McCarthy B J. Polymorphism of human glycoprotein Iba results from a variable number of tandem repeats of a 13-amino acid sequence in the mucin-like macroglucopeptide region. J Biol Chem 1992; 267: 10055-61.
3. Rivera C E, Villagra J, Riordan M, Williams S, Lindstrom K J, Rick M E. Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. Br J Haematol 2001: 112: 105-8.
4. Noda M, Fujimura K, Takafuta T, Shimomura T, Fujimoto T, Yamamoto N, et al. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. Thromb Haematost 1995; 74: 1411-5.
5. Iwanaga M, Kunishima S, Ikeda S, Tomonaga M, Naoe T. Vulnerable mutation Trp126→stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. Eur J Haematol 1998; 60: 264-6.