Title : A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency.

Pub. Date : 2009 Apr

PMID : 19636199






1 Functional Relationships(s)
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1 The molecular analysis of CYP17A1 revealed a novel homozygous missense mutation resulting in the substitution of arginine to lysine at the amino acid position 21 (p.R21L). Arginine cytochrome P450 family 17 subfamily A member 1 Homo sapiens