Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency.

Source:http://linkedlifedata.com/resource/pubmed/id/1515452

Biochim. Biophys. Acta 1992 Aug 25 1139 4 275-9

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PMID
1515452