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Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis

✍ Scribed by Claire L Mitchell; Vincent R Harley


Book ID
117735441
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
399 KB
Volume
77
Category
Article
ISSN
1096-7192

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Mutations in the conserved domain of SRY
✍ EnikΓΆ K. Pivnick; Stephen Wachtel; Diane Woods; Joe Leigh Simpson; Colin E. Bish πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 313 KB

In order to evaluate the role of SRY in the determination of the testis, we sequenced the conserved domain of the SRY gene in 8 patients with 46,XY gonadal dysgenesis and 3 patients with related disorders, and compared our data with those obtained in 6 other similar studies. In our study, a 609-bp f