PMID: 8594566Jan 1, 1996Paper

The androgen receptor gene mutations database

Nucleic Acids Research
B GottliebL Pinsky

Abstract

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. The database is available from EML (ftp://www.ebi.ac.uk/pub/databases/androgen) or as a Macintosh Filemaker file (MC33@musica.mcgill.ca).

References

Nov 1, 1992·The Journal of Clinical Investigation·M J McPhaulJ D Wilson
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Citations

Jan 16, 1999·Baillière's Clinical Endocrinology and Metabolism·O HiortE M Nitsche
Apr 1, 1997·The Journal of Steroid Biochemistry and Molecular Biology·C L BevanM N Patterson
Jan 6, 2001·International Journal of Urology : Official Journal of the Japanese Urological Association·N SakaiT Murayama
Jun 1, 1997·Archives of Disease in Childhood·B A EvansJ W Gregory
Feb 1, 1997·Journal of Medical Genetics·H R DaviesM N Patterson
Jun 1, 1996·Current Opinion in Genetics & Development·D Engelkamp, V van Heyningen
May 18, 2004·Human Mutation·Bruce GottliebMark Trifiro
Aug 12, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Manuel NistalMiguel Reyes-Múgica
Jul 29, 1999·Human Mutation·B GottliebM Trifiro
Mar 23, 2000·American Journal of Medical Genetics·B GottliebM Trifiro
Jun 27, 1998·Journal of Pediatric Endocrinology & Metabolism : JPEM·G L WarneH E MacLean
Mar 1, 1997·Andrologia·P Wieacker, S Jakubiczka

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