Homozygous cys542 → Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia

British Journal of Haematology

Volumn 105, Issue 2, 1999, Pages 523-531

  Ruan, Jian ^a   Schmugge, Markus ^b   Clemetson, Kenneth J ^c   Cazes, Eric ^a   Combrie, Robert ^a   Bourre, François ^a   Nurden, Alan T ^a  

^a HAUT LÉVÊQUE HOSPITAL   (France)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY OF BERN   (Switzerland)

Author keywords

Glanzmann's thrombasthenia; GPIIb IIIa complexes; GPIIIa gene; PCR SSCP; Vitronectin receptor

Indexed keywords

ARGININE; CYSTEINE; FIBRINOGEN RECEPTOR; GLYCOPROTEIN IIB; GLYCOPROTEIN IIIA; VITRONECTIN RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTROLLED STUDY; DISULFIDE BOND; DNA SEQUENCE; FEMALE; FLOW CYTOMETRY; GLANZMANN DISEASE; HUMAN; IMMUNOBLOTTING; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION SITE; SINGLE STRAND CONFORMATION POLYMORPHISM; THROMBOCYTE AGGREGATION; TUBEROUS SCLEROSIS; GENETICS; HOMOZYGOTE; METHODOLOGY; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

AMINO ACID SUBSTITUTION; ARGININE; BLOTTING, WESTERN; CHILD, PRESCHOOL; CYSTEINE; FEMALE; FLOW CYTOMETRY; HOMOZYGOTE; HUMANS; PEDIGREE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THROMBASTHENIA;

EID: 0032589252     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.1999.01376.x     Document Type: Article

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