雄激素受体基因突变数据库。
The androgen receptor gene mutations database.
作者信息
Patterson M N, Hughes I A, Gottlieb B, Pinsky L
机构信息
Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital, UK.
出版信息
Nucleic Acids Res. 1994 Sep;22(17):3560-2.
Abstract
The androgen receptor gene mutations database is a comprehensive listing of mutations published in journals and meetings proceedings. The majority of mutations are point mutations identified in patients with androgen insensitivity syndrome. Information is included regarding the phenotype, the nature and location of the mutations, as well as the effects of the mutations on the androgen binding activity of the receptor. The current version of the database contains 149 entries, of which 114 are unique mutations. The database is available from EMBL (NetServ@EMBL-Heidelberg.DE) or as a Macintosh Filemaker file (mc33001@musica.mcgill.ca).
摘要
雄激素受体基因突变数据库是已发表在期刊和会议论文集中的突变的综合列表。大多数突变是在雄激素不敏感综合征患者中鉴定出的点突变。其中包括有关表型、突变的性质和位置，以及突变对受体雄激素结合活性影响的信息。该数据库的当前版本包含149条记录，其中114条是独特的突变。可从欧洲分子生物学实验室（NetServ@EMBL-Heidelberg.DE）获取该数据库，也可作为Macintosh Filemaker文件（mc33001@musica.mcgill.ca）获取。
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