Title : A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency.

Pub. Date : 1997 Jun

PMID : 9177409






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 This exon skipping alters the translational reading frame of exon 8 and introduces a premature stop codon (TAA) at amino acid position 410 proximal to the heme iron-binding site essential for the enzymatic activity of CYP17. Iron cytochrome P450 family 17 subfamily A member 1 Homo sapiens