Haemochromatosis: A gene at last?

被引：6

作者：

Robson, KJH

Shearman, JD

MerryweatherClarke, AT

Pointon, JJ

Rosenberg, WM

Walker, AP

Dooley, JS

Bomford, A

RahaChowdhury, R

Worwood, M

机构：

[1] MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington

来源：

JOURNAL OF MEDICAL GENETICS | 1997年 / 34卷 / 02期

关键词：

haemochromatosis; genetic mapping;

D O I：

10.1136/jmg.34.2.148

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Simon et al in 1976 first reported the association between the leucocyte antigens HLA-AS and HLA-B14 and genetic haemochromatosis (GH). Now, 20 years later, Feder et al report the cloning of what is the strongest candidate gene for this disorder to have been identified so far. Formal proof from functional studies is now required to confirm that mutations in this gene are responsible for causing haemochromatosis. The question now arises as to why this gene has proved so elusive.

引用

页码：148 / 151

页数：4

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