𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Familial complete androgen insensitivity syndrome with prostatic tissue and seminal vesicles

✍ Scribed by Kalpalata Tripathy; Kalyaniprava Gouda; Pramod Kumar Palai; Lucy Das


Book ID
106081618
Publisher
Springer
Year
2010
Tongue
English
Weight
244 KB
Volume
282
Category
Article
ISSN
0003-9128

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Five novel androgen receptor gene mutati
✍ Jarmo JÀÀskelΓ€inen; Nigel P. Mongan; Sharon Harland; Ieuan A. Hughes πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 241 KB

Mutations in the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS). We have identified five novel mutations that result in a complete loss in AR function and are associated with complete AIS. The mutations span all three AR major functional domains. In two cases, the loss o

Novel androgen receptor gene mutations i
✍ Helen E. MacLean; Emma M.A. Ball; Georgia Rekaris; Garry L. Warne; Jeffrey D. Za πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 35 KB

## Communicated by Bruce Gottlieb We have identified androgen receptor (AR) gene mutations in eight Australian subjects with complete androgen insensitivity syndrome (AIS). Four individuals, from three families, have novel mutations that introduce premature termination codons. Two siblings have th

Point mutation in the steroid-binding do
✍ Sibylle Jakubiczka; Edmond A. Werder; Peter Wieacker πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 325 KB

An exonic single nucleotide substitution in the human androgen receptor gene (hAR) could be detected in an Italian family with two children affected by complete androgen insensitivity syndrome (CAIS), also called testicular feminization. This mutation leads to a guanine to adenine transition in exon