Article
Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.
Endocrine pathology - 1 Jan 2009
Nájera Nayelli, Garibay Nayely, Pastrana Yadira, Palma Icela, Peña Yolanda-Rocio, Pérez Javier, Coyote Ninel, Hidalgo Alberto, Kofman-Alfaro Susana, Queipo Gloria
Abstract excerpt
17alpha-Hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia caused by mutations in the CYP17A1 gene. This condition shows considerable clinical and biochemical variation. Molecular characterization of novel mutations in the CYP17A1 gene and detailed study of their structural, enzymatic, and clinical consequences are required to fully understand enzyme behavior. Here, we present the...
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