Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T

Three novel mutations in the androgen receptor gene associated with partial androgen insensitivity syndrome: H570R, G589E and S759T

Three novel mutations in the androgen receptor gene were detectedby PCR-SSCP and characterized by DNA sequencing of genomicDNA samples from 3 unrelated patients with male pseudohermaphroditism caused by partial androgen insensitivity. Thepatients’ phenotypes suggest that these mutations impaired but...

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Bibliographic Details
Main Authors: Patrícia Renovato Tobo, Angela Silva Barbosa, Lene Garcia Barbosa, Angela Maria Spínola-Castro, Carlos Alberto Moreira-Filho
Format: Article
Language:English
Published: Instituto Israelita de Ensino e Pesquisa Albert Einstein 2003-03-01
Series:Einstein (São Paulo)
Subjects:
Mutation
Androgens
Androgen-insensitivity syndrome
Polymerase chain reaction
Polymorphism
Single stranded conformational
Pseudohermaphroditism
Male
Online Access:http://www.einstein.br/biblioteca/pdf/Artigo%201.pdf

Internet

http://www.einstein.br/biblioteca/pdf/Artigo%201.pdf

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