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Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis

✍ Scribed by Giuseppina Fogu; Veronica Bertini; Salvatore Dessole; Pasquale Bandiera; PaolaMaria Campus; Giampiero Capobianco; Raimonda Sanna; Giovanna Soro; Andrea Montella


Publisher
Springer
Year
2003
Tongue
English
Weight
153 KB
Volume
269
Category
Article
ISSN
0003-9128

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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