Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes.

Randall K. Saiki, P. Sean Walsh, C. Levenson · Proceedings of the National Academy of Sciences · 1989 · 1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Structure of human steroid 21-hydroxylase genes.

Perrin C. White, Maria I. New, Bo Dupont · Proceedings of the National Academy of Sciences · 1986 · 578 citations · Full text

Life Sciences, Biochemistry, Genetics +16

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

Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily

Aurelio Maggio, Antonino Giambona, SP Cai et al. · Blood · 1993 · 169 citations · Full text

Medicine, Genetics, Molecular Genetics +17