Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome

British Journal of Haematology

Volumn 112, Issue 1, 2001, Pages 105-108

  Rivera, Candido E ^a   Villagra, Jose ^a   Riordan, Michael ^a   Williams, Sybil ^a   Lindstrom, Katarina J ^a   Rick, Margaret E ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Bernard Soulier syndrome; Bleeding; GPIX; Mutation; Thombocytopenia

Indexed keywords

BLOOD CLOTTING FACTOR 9; THROMBIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; CHILD; DISULFIDE BOND; DNA RESTRICTION; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

BASE SEQUENCE; BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; CHILD, PRESCHOOL; FLOW CYTOMETRY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; RESTRICTION MAPPING; SEQUENCE ANALYSIS, DNA;

EID: 0035134149     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02529.x     Document Type: Article

References (6)

1. The critical interaction of glycoprotein (GP) Ibβ with GPIX - A genetic cause of Bernard-Soulier syndrome
2. Characterization of cDNA encoding full-length mouse platelet glycoprotein IX
3. Cys97→Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome
4. Bernard-Soulier syndrome
5. Increased thrombin responsiveness in platelets from mice lacking glycoprotein V
6. Glycocalicin levels in the plasma of HIV+ patients; an indicator of platelet turnover