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Article

[Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening].

Medicina clinica - 15 Oct 2005

Ezquieta Begoña, Ruano Miguel L F, Dulín Elena, Arnao Dolores R, Rodríguez Amparo

Abstract excerpt

BACKGROUND AND OBJECTIVE: Cystic fibrosis (CF) and the nonclassical forms of congenital adrenal hyperplasia (NC21OHD) are frequent autosomal recessive diseases. Their frequencies in the Caucasian population are the ones applied to the management of the diseases (1:2500 and 1:1000, respectively). The aim of this study was to learn about the adequacy of these figures to the Spanish population. MATERIAL AND METHOD:...

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Share to Adrenal Hyperplasia, Congenital
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Recessive

Share to Infant, Newborn

Share to Neonatal Screening

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Source

Identifiers

PMID: 16238926
DOI: 10.1157/13080213

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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