Phenotype/Genotype correlations in 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 · 580 citations · Full text

Genetics, Pathology, Disease Gene Identification +18

Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

Yasuhiro Higashi, H. Yoshioka, Miki Yamane et al. · Proceedings of the National Academy of Sciences · 1986 · 561 citations · Full text

Genuine Genes, Genetics, Molecular Biology +16

High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency

Phyllis Speiser, Bo Dupont, Pablo Rubinstein et al. · Obstetrical & Gynecological Survey · 1986 · 527 citations

Author Information, Literary Criticism, Arts +10

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

Michael C. Carroll, R. Duncan Campbell, Roy Porter · Proceedings of the National Academy of Sciences · 1985 · 371 citations · Full text

Hla, Histocompatibility, Genetics +19

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.

Perrin C. White, Maria I. New, Bo Dupont · Proceedings of the National Academy of Sciences · 1984 · 292 citations · Full text

Genetics, Gynecology, Defective Gene +19