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  • Title: Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families.
    Author: Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS.
    Journal: Hum Genet; 1989 Jun; 82(3):285-6. PubMed ID: 2786493.
    Abstract:
    During the course of studies to characterize mutations of the CYP17 gene that cause the 17 alpha-hydroxylase-deficient form of congenital adrenal hyperplasia we have discovered two ostensibly unrelated Mennonite families in which affected individuals are homozygous for the same mutation. The defect is a four-base duplication in exon 8 of the CYP17 gene, which alters the reading frame encoding the C-terminal 26 amino acids of cytochrome P450(17 alpha).
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