Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Phyllis Speiser, Jakob Dupont, Dongjian Zhu et al. · Journal of Clinical Investigation · 1992 · 583 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Worldwide Experience in Newborn Screening for Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Songya Pang, M A Wallace, L F Hofman et al. · The Journal of Urology · 1988 · 398 citations

Medicine, Endocrinology, Pediatrics +15

Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.

Yasuhiro Higashi, Ayako Tanae, Hideshi Inoue et al. · Proceedings of the National Academy of Sciences · 1988 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Effects of Individual Mutations in the P-450(C21) Pseudogene on the P-450(C21) Activity and Their Distribution in the Patient Genomes of Congenital Steroid 21-Hydroxylase Deficiency1

Yujiro Higashi, T Hiromasa, Ayako Tanae et al. · The Journal of Biochemistry · 1991 · 207 citations

Life Sciences, Endocrinology, Genetics +11

Molecular characterization of the HLA‐linked steroid 21‐hydroxylase B gene from an individual with congenital adrenal hyperplasia.

Nanda R. Rodrigues, Ian Dunham, C. Yung Yu et al. · The EMBO Journal · 1987 · 186 citations · Full text

Life Sciences, Endocrinology, Genetics +13