CKN1 (MIM 216400):: mutations in Cockayne syndrome type A and a new common polymorphism

被引：22

作者：

Cao, HN ^{[1
]}

Williams, C ^{[1
]}

Carter, M ^{[1
]}

Hegele, RA ^{[1
]}

机构：

[1] John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada

来源：

JOURNAL OF HUMAN GENETICS | 2004年 / 49卷 / 01期

关键词：

aging; DNA repair; developmental delay; dwarfism; photosensitivity;

D O I：

10.1007/s10038-003-0107-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups.

引用

页码：61 / 63

页数：3

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