Concepedia

Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)

Dianne Keen‐Kim, Joy B. Redman, Reno U. Alanes, Michele M. Eachus, Robert C. Wilson, Maria I. New, Jon M. Nakamoto, Raymond G. Fenwick

Journal of Molecular Diagnostics · 2005 · 52 citations · 36 references

Open access

Concepts

Adrenal GlandCongenital Adrenal HyperplasiaGenetic DisorderMedicineInherited Metabolic DiseaseAdrenal HealthPediatricsPathologyClinical ApplicationAdrenal Disease21-Hydroxylase Deficiency

References

36

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Perrin C. White · Endocrine Reviews · 2000 · 876 citations

Adrenal Gland, Urology, Congenital Adrenal Hyperplasia +3

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

Structure of human steroid 21-hydroxylase genes.

Perrin C. White, Maria I. New, Bo Dupont · Proceedings of the National Academy of Sciences · 1986 · 573 citations · Full text

Biosynthesis, B Gene, Biochemistry +13

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