The androgen receptor gene mutations database

被引：32

作者：

Gottlieb, B

Trifiro, M

Lumbroso, R

Vasiliou, DM

Pinsky, L

机构：

[1] MCGILL UNIV, DEPT MED, MONTREAL, PQ H3T 1E2, CANADA

[2] MCGILL UNIV, DEPT BIOL, MONTREAL, PQ H3T 1E2, CANADA

[3] MCGILL UNIV, DEPT HUMAN GENET, MONTREAL, PQ H3T 1E2, CANADA

[4] JOHN ABBOTT COLL, DEPT BIOL, BELLVUE, PQ H9X 3L9, CANADA

来源：

NUCLEIC ACIDS RESEARCH | 1996年 / 24卷 / 01期

关键词：

D O I：

10.1093/nar/24.1.151

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The current version of the androgen receptor (AR) gene mutations database is described. We have added (if available) data on the androgen binding phenotype of the mutant AR, the clinical phenotype of the affected persons, the family history and whether the pathogenicity of a mutation has been proven. Exonic mutations are now listed in 5'-->3' sequence regardless of type and single base pair changes are presented in codon context, Splice site and intronic mutations are listed separately The database has allowed us to substantiate and amplify the observation of mutational hot spots within exons encoding the AR androgen binding domain.

引用

页码：151 / 154

页数：4

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