Title : Induction of endometrial cycles and ovulation in a woman with combined 17alpha-hydroxylase/17,20-lyase deficiency due to compound heterozygous mutations on the p45017alpha gene.

Pub. Date : 2000 Jun

PMID : 10856480






1 Functional Relationships(s)
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1 RESULT(S): Two different mutations were detected on CYP17: One was a deletion of the phenylalanine codon (TTC) at either amino acid 53 or 54 in exon 1, and the other was a missense mutation with the substitution of histidine (CAC) by leucine (CTC) at position 373 in exon 6. Phenylalanine cytochrome P450 family 17 subfamily A member 1 Homo sapiens