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Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes

We have discovered two different point mutations in a single codon of the X-linked androgen-receptor (AR) gene in two pairs of unrelated families who have complete androgen insensitivity (resistance) associated with different AR phenotypes in their genital skin fibroblasts. One mutation is a C-to-T...

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Hlavní autoři: Prior, Lynn, Bordet, Sylvie, Trifiro, Mark A., Mhatre, Anand, Kaufman, Morris, Pinsky, Leonard, Wrogeman, Klaus, Belsham, Denise D., Pereira, Fred, Greenberg, Cheryl, Trapman, Jan, Brinkman, Albert O., Chang, Chawnshang, Liao, Shutsung
Médium: Artigo
Jazyk:Inglês
Vydáno: 1992
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682864/
https://ncbi.nlm.nih.gov/pubmed/1609793
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