Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single-stranded conformation polymorphism.

doi:10.1016/s0015-0282(16)56696-5

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Article

Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single-stranded conformation polymorphism.

Fertility and sterility - 1 May 1994

Yong E L, Chua K L, Yang M, Roy A, Ratnam S

Abstract excerpt

OBJECTIVE: To characterize the genetic defect in a family with complete androgen insensitivity syndrome and to determine whether single-stranded conformation polymorphism (SSCP) can be used to detect subtle mutations in the androgen receptor (AR) gene. DESIGN: Amplification, subcloning where appr...

Topics

Adolescent
Adult
Alleles
Androgens
DNA
Electrophoresis, Agar Gel
Exons
Family Health
Female
Genes
Genetic Testing
Humans
Male
Mutation
Pedigree
Polymorphism, Genetic
Receptors, Androgen

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