𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis

✍ Scribed by J. Ramón Bilbao,Liliane Loridan,Luis Castaño


Book ID
118291957
Publisher
Springer
Year
1996
Tongue
English
Weight
48 KB
Volume
97
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutations in the conserved domain of SRY
✍ Enikö K. Pivnick; Stephen Wachtel; Diane Woods; Joe Leigh Simpson; Colin E. Bish 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 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