Autosomal dominant reticulo-endothelial iron overload associated with a three base pair deletion in the ferroportin 1 gene

被引：0

作者：

Devalia, V

Carter, K

Walker, AP

Perkins, SJ

Worwood, M

May, A

Dooley, JS

机构：

[1] Prince Wales Hosp, Dept Haematol, Bridgend, Wales

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

[3] UCL, Royal Free & Univ Coll Sch Med, Dept Med, London, England

[4] UCL, Royal Free & Univ Coll Sch Med, Dept Biochem & Mol Biol, London, England

来源：

JOURNAL OF HEPATOLOGY | 2002年 / 36卷

关键词：

D O I：

10.1016/S0168-8278(02)80643-2

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

642

引用

页码：182 / 182

页数：1

共 33 条

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AMERICAN JOURNAL OF HEMATOLOGY, 1999, 62 (04) : 260 - 261
[29] Congenital adrenal hyperplasia due to 11-hydroxylase deficiency:: Functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene
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JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (06): : 3724 - 3730
[30] A two base pair deletion at position-72/-73 of the ankyrin-1 promoter associated with hereditary spherocytosis disrupts TFIID complex binding and decreases transcription of a linked reporter gene.
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