Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.

doi:10.1210/jcem.83.9.5071

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Article

Salt-wasting congenital adrenal hyperplasia: detection of mutations in CYP21B gene in a Chilean population.

The Journal of clinical endocrinology and metabolism - 1 Sept 1998

Fardella C E, Poggi H, Pineda P, Soto J, Torrealba I, Cattani A, Oestreicher E, Foradori A

Abstract excerpt

The steroid 21-hydroxylase deficiency (21OHD) is the most frequent cause of congenital adrenal hyperplasia. We have characterized the disease-causing mutations in the 21-hydroxylase genes of 63 patients with salt-wasting congenital adrenal hyperplasia from a Chilean population of Hispanic origin,...

Topics

Adrenal Hyperplasia, Congenital
Alleles
Chile
Female
Gene Deletion
Genotype
Homozygote
Humans
Male
Mutation
Polymerase Chain Reaction
RNA Splicing
Steroid 21-Hydroxylase

Source

Open in PubMed

Identifiers

PMID: 9745454
DOI: 10.1210/jcem.83.9.5071

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9745454-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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