Article
A familial mutation in the testis-determining gene SRY shared by both sexes.
Human genetics - 1 Dec 1992
Jäger R J, Harley V R, Pfeiffer R A, Goodfellow P N, Scherer G
Abstract excerpt
A familial mutation in SRY, the gene coding for the testis-determining factor TDF, was identified in an XY female with gonadal dysgenesis, her father, her two brothers and her uncle. The mutation consists of a T to C transition in the region of the SRY gene coding for a protein motif known as the high mobility group (HMG) box, a protein domain known to confer DNA-binding specificity on the SRY protein. This point...
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