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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
Costa-Santos, Marivania, Kater, Claudio E., Dias, Eduardo P., Auchus, Richard J.Volume:
89
Language:
english
Journal:
The Journal of Clinical Endocrinology & Metabolism
DOI:
10.1210/jc.2003-031020
Date:
January, 2004
File:
PDF, 220 KB
english, 2004