𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome

✍ Scribed by Charlotte L. Bevan; Ieuan A. Hughes; Mark N. Patterson

Book ID
117668815
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
855 KB
Volume
61
Category
Article
ISSN
0960-0760

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Novel androgen receptor gene mutations i
Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome
✍ 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

Five novel androgen receptor gene mutati
Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome
✍ 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