Associated Papers
Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.
Kok RC et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D et al.
The New England Journal of Medicine, 2009
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
Hershkovitz E et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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 M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
Costa-Santos M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
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