✦ LIBER ✦

Complete androgen insensitivity syndrome associated with a de novo mutation of the androgen receptor gene detected by single strand conformation polymorphism

✍ Scribed by Lobaccaro, Jean-Marc; Lumbroso, Serge; Berta, Philippe; Chaussain, Jean-Louis; Sultan, Charles

Book ID: 122882474
Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 627 KB
Volume: 44
Category: Article
ISSN: 0960-0760
DOI: 10.1016/0960-0760(93)90081-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutation in the ligand-binding dom

Novel mutation in the ligand-binding domain of the androgen receptor gene (1790p) associated with complete androgen insensitivity syndrome

✍ Florina Raicu; Rossella Giuliani; Valentina Gatta; Chiara Palka; Paolo Guanciali 📂 Article 📅 2008 🏛 Nature Publishing Group 🌐 English ⚖ 361 KB

Hamartoma in a pubertal patient with com

Hamartoma in a pubertal patient with complete androgen insensitivity syndrome and R(831)X mutation of the androgen receptor gene

✍ Chih-Ping Chen; Schu-Rern Chern; Be-Fong Chen; Wayseen Wang; Yuh-Ming Hwu 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 76 KB

A(870)E mutation of the androgen recepto

A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and sertoli cell tumor

✍ I Knoke; S Jakubiczka; T Ottersen; A Göppinger; P Wieacker 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 919 KB

Point mutation in the steroid-binding do

Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)

✍ Sibylle Jakubiczka; Edmond A. Werder; Peter Wieacker 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 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

A large deletion/insertion-induced frame

A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome

✍ Peikuan Cong; Yinghui Ye; Yue Wang; Lingping Lu; Jing Yong; Ping Yu; Kimani Kagu 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 502 KB

Identification of a Critical Novel Mutat

Identification of a Critical Novel Mutation in the Exon 1 of Androgen Receptor Gene in 2 Brothers With Complete Androgen Insensitivity Syndrome

✍ Radpour, R.; Falah, M.; Aslani, A.; Zhong, X. Y.; Saleki, A. 📂 Article 📅 2008 🏛 American Society of Andrology 🌐 English ⚖ 397 KB