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A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome

✍ Scribed by Hai Lan Rong; Noriko Suzuki; Atsushi Imai


Book ID
116435494
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
158 KB
Volume
148
Category
Article
ISSN
0301-2115

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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