Title : Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells.

Pub. Date : 2004 Jan

PMID : 14715826






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The mRNA derived from the wild-type CYP17 gene was correctly spliced and translated into active enzyme, as shown by the correct sequence in the RT-PCR products and by the 17-hydroxylation of progesterone. Progesterone cytochrome P450 family 17 subfamily A member 1 Homo sapiens