Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF

被引：11

作者：

Ament, Andrea E. ^{[1
]}

Li, Zhongyuan ^{[1
]}

Sturm, Amy C. ^{[1
,2
]}

Perko, James D. ^{[1
]}

Lawson, Sarah ^{[3
]}

Masterson, Margaret ^{[4
]}

Quadros, Edward V. ^{[5
,6
]}

Tanner, Stephan M. ^{[1
]}

机构：

[1] Ohio State Univ, Ctr Comprehens Canc, Columbus, OH 43210 USA

[2] Ohio State Univ, Dept Internal Med, Columbus, OH 43210 USA

[3] Birmingham Childrens Hosp, Dept Haematol, Birmingham, W Midlands, England

[4] Univ Med & Dent New Jersey, Robert Wood Johnson Med Sch, Dept Pediat, Div Pediat Hematol & Oncol, New Brunswick, NJ USA

[5] Suny Downstate Med Ctr, Dept Med, Brooklyn, NY 11203 USA

[6] Suny Downstate Med Ctr, Dept Cell Biol, Brooklyn, NY 11203 USA

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2009年 / 144卷 / 04期

关键词：

juvenile cobalamin deficiency; cobalamin (vitamin B-12); founder mutation; mutation detection; African ethnicity; HEREDITARY MEGALOBLASTIC-ANEMIA; VITAMIN-B12; MALABSORPTION; PROTEINURIA;

D O I：

10.1111/j.1365-2141.2008.07496.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：622 / 624

页数：3

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