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

✍ Scribed by Costa-Santos, Marivania; Kater, Claudio E.; Dias, Eduardo P.; Auchus, Richard J.

• Book ID: 124154658
• Publisher: Endocrine Society
• Year: 2004
• Tongue: English
• Weight: 220 KB
• Volume: 89
• Category: Article
• ISSN: 0021-972X
• DOI: 10.1210/jc.2003-031020