A second case of variant of Glanzmann's thrombasthenia due to substitution of platelet GPIIIa (integrin beta 3) Arg214 by Trp.
Djaffar
I
I
U348 INSERM, Hôpital Lariboisière, Paris, France.
Rosa
J P
JP
D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D001792:Blood Platelets / Q000378:metabolism; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D015252:Deoxyribonucleases, Type II Site-Specific; D006801:Humans; D039661:Integrin beta3; D016023:Integrins / Q000096:biosynthesis / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D012313:RNA / Q000097:blood / Q000302:isolation & purification; D013915:Thrombasthenia / Q000235:genetics*; D014158:Transcription, Genetic; D014364:Tryptophan
D039661:Integrin beta3; D016023:Integrins; D012313:RNA; D014364:Tryptophan; D001120:Arginine; D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases