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- W2042337807 abstract "This report describes the identification of a point mutation in the 5α-reductase type 2 (5α-SR2) gene from a family in which both sibs (6 and 3 years old) have steroid 5α-reductase 2 deficiency. The five exons of the gene were individually amplified by the polymerase chain reaction (PCR) and analysed for single-strand conformation polymorphisms (SSCP) to detect mutations. Direct sequencing of the mutant PCR products demonstrated a single C→T mutation, within exon 4, changing codon 227 from CGA (Arg) to TGA (premature termination signal). Both patients were homozygous for the mutation, but their parents were heterozygous. These results suggest that the mutation at codon 227 impairs normal 5α-SR2 function, thus leading to the phenotypical expression of this rare enzymatic defect. Am. J. Med. Genet. 69:69–72, 1997. © 1997 Wiley-Liss, Inc." @default.
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- W2042337807 date "1997-03-03" @default.
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- W2042337807 title "Molecular analysis of the 5α-steroid reductase type 2 gene in a family with deficiency of the enzyme" @default.
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- W2042337807 doi "https://doi.org/10.1002/(sici)1096-8628(19970303)69:1<69::aid-ajmg13>3.0.co;2-m" @default.
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