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Update of the androgen receptor gene mutations database

✍ Scribed by Bruce Gottlieb; Lenore K. Beitel; Rose Lumbroso; Leonard Pinsky; Mark Trifiro

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 380 KB
Volume: 14
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1999)14:2<103::aid-humu2>3.0.co;2-a

No coin nor oath required. For personal study only.

✦ Synopsis

The current version of the androgen receptor (AR) gene mutations database is described. The total number of reported mutations has risen from 309 to 374 during the past year. We have expanded the database by adding information on AR-interacting proteins; and we have improved the database by identifying those mutation entries that have been updated. Mutations of unknown significance have now been reported in both the 5' and 3' untranslated regions of the AR gene, and in individuals who are somatic mosaics constitutionally. In addition, single nucleotide polymorphisms, including silent mutations, have been discovered in normal individuals and in individuals with male infertility. A mutation hotspot associated with prostatic cancer has been identified in exon 5. The database is available on the internet (http://www.mcgill.ca/androgendb/), from EMBL-European Bioinformatics Institute (ftp.ebi.ac.uk/pub/databases/androgen), or as a Macintosh FilemakerPro or Word file ([email protected]).

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