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Molecular diagnosis of 5α-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism

✍ Scribed by Marumudi Eunice; Pascal Philibert; Bindu Kulshreshtha; Françoise Audran; Françoise Paris; Madan L. Khurana; Praveen E. Pulikkanath; Kiran Kucheria; Charles Sultan; Ariachery C. Ammini

Book ID: 111357478
Publisher: Nature Publishing Group
Year: 2008
Tongue: English
Weight: 596 KB
Volume: 10
Category: Article
ISSN: 1008-682X
DOI: 10.1111/j.1745-7262.2008.00350.x

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This report describes the identification of a point mutation in the 5␣-reductase type 2 (5␣-SR2) gene from a family in which both sibs (6 and 3 years old) have steroid 5␣-reductase 2 deficiency. The five exons of the gene were individually amplified by the polymerase chain reaction (PCR) and analyse