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

Article

Abstract: To date, only two among 46 mutations in the CYP17 gene cause 17-hydroxylase deficiency (17OHD) by di

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Autores:

Costa-Santos M., Dias E., Kater C.E., Richard J. Auchus

Fuentes:

scopus