Title : P450c17 deficiency: clinical and molecular characterization of six patients.

Pub. Date : 2007 Mar

PMID : 17192295






1 Functional Relationships(s)
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1 RESULTS: Four homozygote mutations were identified by direct sequencing of the CYP17A1 gene corresponding to an alanin 302-proline (A302P) exchange; the loss of lysine 327 (K327del); the deletion of glutamate 331 (E331del); and the replacement of arginine 416 with a histidine (R416H). Glutamic Acid cytochrome P450 family 17 subfamily A member 1 Homo sapiens