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Publication : 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.

First Author  Yanase T Year  1992
Journal  Biochim Biophys Acta Volume  1139
Issue  4 Pages  275-9
PubMed ID  1515452 Mgi Id 
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