一个患有罕见的X连锁血型Lu(a-b-)表型和轻度大血小板性血小板减少症的家族中发现一种新的GATA1突变（Stop414Arg） - Suppr

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超能文献

A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.

作者信息

Singleton Belinda K, Roxby David J, Stirling John W, Spring Frances A, Wilson Carolyn, Poole Joyce, Anstee David J

出版信息

Br J Haematol. 2013 Apr;161(1):139-42. doi: 10.1111/bjh.12184. Epub 2012 Dec 24.

DOI:10.1111/bjh.12184

PMID:23278136

Abstract

摘要

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A novel GATA1 mutation (Stop414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype and mild macrothrombocytic thrombocytopenia.一个患有罕见的X连锁血型Lu(a-b-)表型和轻度大血小板性血小板减少症的家族中发现一种新的GATA1突变（Stop414Arg）

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