庄子的著作
细胞膜A ca of Bernard-Soulier Syndrome due to a homozygous four bas deletion (TGAG) of GPIb αgene: Lack of GPIb α but abnce of bleeding
记忆游戏新手英语期刊名称： Platelets
吞声忍泪
作者： Silvia Vettore,Raffaella Scandellari,Margherita Scapin,Anna Maria
属羊的今年几岁
Lombardi,Fabrizio Fabris
年份： 2009年
期号： 第5期梅花诗句
关键词： Glycoprotein Ib alpha;Bernard-Soulier;Congenital thrombocytopenia
摘要：More than 20 DNA mutations with different inheritance pattern have been described in patients with Bernard-Soulier Syndrome (BSS), leading to abnormal or abnt synthesis and/or expression of GPIbalpha. Clinical phenotype shows considerable variation between individuals, such as bleeding, pla
telet count and the percentage of large platelets. We describe in a BSS patient the first ca of homozygous four bas deletion (TGAG) in the gpIbalpha gene coding quence, leading to a premature stop codon. In the propositus, blood smears revealed giant platelets (30 x 10(9) platelets/L), and platelet agglutination to ristocetin was abnt. Propositus' parents are consanguineous. His father and paternal grandmother showed a mild thrombocytopenia (108 x 10(9)/L and 120 x 10(9)/L platelets respectively) while mothers and sister's
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