Title : A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters.

Pub. Date : 2003 Mar 28

PMID : 12706306






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The other allele contained nine-base pair deletion, located in exon 8, eliminating codons 487-489 (Asp-Ser-Phe) near the carboxy-terminus of P450c17. Serine cytochrome P450 family 17 subfamily A member 1 Homo sapiens