New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

Hackel, Christine

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. [electronic resource] - Journal of molecular medicine (Berlin, Germany) Jul 2005 - 569-76 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0946-2716

10.1007/s00109-005-0651-7 doi


3-Oxo-5-alpha-Steroid 4-Dehydrogenase--deficiency
Adolescent
Adult
Brazil
Child
Child, Preschool
Consanguinity
Disorders of Sex Development--enzymology
Female
Founder Effect
Humans
Infant
Infant, Newborn
Male
Mutation--genetics
Sequence Analysis, DNA