Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred

We report the characterization of a mutation in 5 alpha -reductase in a large kindred from the Dominican Republic and show that a change in a single base pair in exon 5 of the type 2 gene produces an enzyme with an altered optimal pH and an abnormal affinity for its cofactor, NADPH.

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Bibliographic Details
Published inThe New England journal of medicine Vol. 327; no. 17; pp. 1216 - 1219
Main Authors Thigpen, A E, Davis, D L, Gautier, T, Imperato-McGinley, J, Russell, D W
Format Journal Article
LanguageEnglish
Published United States 22.10.1992
Subjects
3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency
3-Oxo-5-alpha-Steroid 4-Dehydrogenase - genetics
deficiency
Disorders of Sex Development - genetics
DNA - analysis
Dominican Republic
Exons
Female
Humans
Male
man
Mutagenesis, Site-Directed
Pedigree
steroid 5 alpha -reductase
Dominican Republic
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Summary:We report the characterization of a mutation in 5 alpha -reductase in a large kindred from the Dominican Republic and show that a change in a single base pair in exon 5 of the type 2 gene produces an enzyme with an altered optimal pH and an abnormal affinity for its cofactor, NADPH.
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ISSN:0028-4793