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
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