Article
An androgen receptor gene mutation (A645D) in a boy with a normal phenotype.
Human mutation - 1 Jan 1998
Nordenskjöld A, Söderhäll S
Abstract excerpt
Over 100 mutations have so far been published in the androgen receptor gene (AR) in patients with different degrees of undervirilisation. The AR gene consists of 8 exons, exons 2-3 code for the DNA binding domain and exons 4-8 (codon 628-919) for the steroid binding domain (codon 667-919). Only f...
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