A novel mutation in the ALAS2 gene in a family with X-linked sideroblastic anaemia

被引：0

作者：

Percy, MJ

May, A

McMullin, MF

Cuthbert, RJG

机构：

[1] Belfast City Hosp, Dept Haematol, Belfast BT9 7AD, Antrim, North Ireland

[2] Univ Wales Coll Med, Dept Haematol, Cardiff CF4 4XN, S Glam, Wales

[3] Queens Univ Belfast, Dept Haematol, Belfast, Antrim, North Ireland

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2004年 / 125卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：26 / 26

页数：1

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[24] X-LINKED SIDEROBLASTIC ANEMIA - IDENTIFICATION OF THE MUTATION IN THE ERYTHROID-SPECIFIC DELTA-AMINOLEVULINATE SYNTHASE GENE (ALAS2) IN THE ORIGINAL FAMILY DESCRIBED BY COOLEY [J].

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[26] X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation [J].

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[27] A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia [J].

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[28] A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia [J].

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[29] A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man [J].

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