Mutations in the Human CYP11B2 (Aldosterone Synthase) Gene Causing Corticosterone Methyloxidase II Deficiency - Pascoe, Leigh; Curnow, Kathleen M.; Slutsker, Liliya; Rosler, Ariel; White, Perrin C. (Proceedings of the National Academy of Sciences - PNAS, 1992)
Keywords: Adrenal cortex; Adrenals. Adrenal axis. Renin-angiotensin system (diseases); aldosterone; Base Sequence; Biological and medical sciences; Biosynthesis; Complementary DNA; Corticosterone; corticosterone 18-monooxygenase; COS cells; CYP11B2 gene; Cytochrome P-450 CYP11B2; Cytochrome P-450 Enzyme System - genetics; cytochrome P450XIB2; DNA; Endocrine system; Endocrinopathies; Enzymes; Exons; Genes; Genetic mutation; Genetics; Humans; Iran; Jews; man; Medical disorders; Medical sciences; Metabolism; Mixed Function Oxygenases - deficiency; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Non tumoral diseases. Target tissue resistance. Benign neoplasms; nucleotide sequence; Oligodeoxyribonucleotides - chemistry; Pedigree; RNA; role; Steroid Hydroxylases - genetics; Endocrinopathy; Human; Adrenal glands; Enzyme; Steroid hormone; Isozyme; Mineralocorticoid; Cytochrome P450; Deficiency; Biosynthesis; Aldosterone; Genetic disease; Missense mutation