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Article

High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect.

Clinical endocrinology - 1 Mar 2006

Loidi Lourdes, Quinteiro Celsa, Parajes Silvia, Barreiro Jesús, Lestón Domingo G, Cabezas-Agrícola José M, Sueiro Aurelio M, Araujo-Vilar David, Catro-Feijóo Lidia, Costas Javier, Pombo Manuel, Domínguez Fernando

Abstract excerpt

OBJECTIVE: To detect common as well as rare and novel CYP21A mutations in 21-hydroxylase deficiency patients. To estimate the distribution of mutations and compare them with other European studies. To construct haplotypes linked to a recurrent novel mutation. DESIGN: Genetic analysis by sequencin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16487445
DOI: 10.1111/j.1365-2265.2006.02465.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16487445-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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