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

โœ Scribed by Peikuan Cong; Yinghui Ye; Yue Wang; Lingping Lu; Jing Yong; Ping Yu; Kimani Kagunda Joseph; Fan Jin; Ming Qi


Book ID
116508775
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
502 KB
Volume
500
Category
Article
ISSN
0378-1119

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โœ Sibylle Jakubiczka; Edmond A. Werder; Peter Wieacker ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 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