Deletion within the CYP17 gene together with insertion of foreign DNA is the cause of combined complete 17 alpha-hydroxylase/17,20-lyase deficiency in an Italian patient.

Biason A, Mantero F, Scaroni C, Simpson ER, Waterman MR
Mol Endocrinol. 1991 5 (12): 2037-45

PMID: 1665206 · DOI:10.1210/mend-5-12-2037

MeSH Terms (20)

Adolescent Adrenal Hyperplasia, Congenital Aldehyde-Lyases Base Sequence Blotting, Southern Chromosome Deletion Cytochrome P-450 Enzyme System DNA DNA Transposable Elements Exons Humans Introns Italy Male Metabolism, Inborn Errors Molecular Sequence Data Mutation Polymerase Chain Reaction Steroid 17-alpha-Hydroxylase Syndrome

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