Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia | Zendy

Maik Welzel | Zendy; Nele Wüstemann | Zendy; Gunter Šimić-Schleicher | Zendy; Helmuth G. Dörr | Zendy; Egbert Schulze | Zendy; Guftar Shaikh | Zendy; Peter Clayton | Zendy; Joachim Grötzinger | Zendy; PaulMartin Holterhus | Zendy; Felix G. Riepe | Zendy

Open Access

Carboxyl-Terminal Mutations in 3β-Hydroxysteroid Dehydrogenase Type II Cause Severe Salt-Wasting Congenital Adrenal Hyperplasia

Author(s) -

Maik Welzel,

Nele Wüstemann,

Gunter Šimić-Schleicher,

Helmuth G. Dörr,

Egbert Schulze,

Guftar Shaikh,

Peter Clayton,

Joachim Grötzinger,

PaulMartin Holterhus,

Felix G. Riepe

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-1874

Subject(s) - congenital adrenal hyperplasia , dehydrogenase , wasting , hydroxysteroid dehydrogenase , endocrinology , terminal (telecommunication) , medicine , enzyme , chemistry , biology , biochemistry , computer science , telecommunications

3beta-Hydroxysteroid dehydrogenase (3beta-HSD) deficiency is a rare cause of congenital adrenal hyperplasia caused by inactivating mutations in the HSD3B2 gene. Most mutations are located within domains regarded crucial for enzyme function. The function of the C terminus of the 3beta-HSD protein is not known.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research