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A new familial mutation (R133G) in the SRY gene

✍ Scribed by D Plaseska-Karanfilska; P Noveski; K Kuzevska; N Basheska; M Kocova; GD Efremov


Book ID
110888392
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
159 KB
Volume
71
Category
Article
ISSN
0009-9163

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A familial mutation in the testis-determ
✍ Ralf J. JΓ€ger; Vincent R. Harley; Rudolf A. Pfeiffer; Peter N. Goodfellow; Gerd πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 831 KB

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 hi