The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5&#945; reductase deficiency.

Skordis, N; Neocleous, V; Kyriakou, A; Efstathiou, E; Sertedaki, A; Philibert, P; Phylactou, L A; Lumbroso, S; Sultan, C

The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.

Skordis, N; Neocleous, V; Kyriakou, A; Efstathiou, E; Sertedaki, A; Philibert, P; Phylactou, L A; Lumbroso, S; Sultan, C.

Affiliation

Skordis N; Pediatric Endocrine Unit, Makarios Hospital, Nicosia 1474, Cyprus. nskordis@cytanet.com.cy

J Endocrinol Invest ; 33(11): 810-4, 2010 Dec.

Article in En | MEDLINE | ID: mdl-20511729

Subject(s)

3-Oxo-5-alpha-Steroid 4-Dehydrogenase/deficiency; Membrane Proteins/genetics; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics; Adolescent; Adult; Base Sequence; Child, Preschool; Chorionic Gonadotropin; Cyprus; Disorders of Sex Development/genetics; Female; Founder Effect; Humans; Infant; Infant, Newborn; Male; Mutation

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Membrane Proteins Limits: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: Europa Language: En Journal: J Endocrinol Invest Year: 2010 Type: Article Affiliation country: Cyprus

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