Molecular Genetics of Androgen Insensitivity
January 1995
in “
Adolescent and pediatric gynecology
”
androgen insensitivity syndromes AIS androgen receptor gene X chromosome mutations complete androgen insensitivity CAIS partial androgen insensitivity PAIS point mutation codon 686 ligand binding transcriptional activity PCR Southern blot analysis SSCP Kennedy's disease CAG repeat molecular screening tests regulation of androgen receptor gene environmental factors AIS phenotypes androgen insensitivity androgen receptor genetic mutations complete androgen insensitivity partial androgen insensitivity point mutation PCR Southern blot SSCP Kennedy's disease CAG repeat molecular screening gene regulation environmental factors
Studysummary This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
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