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Article

Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2011

Coiana Alessandra, Faa' Valeria, Carta Daniela, Puddu Rosalba, Cao Antonio, Rosatelli Maria Cristina

Abstract excerpt

BACKGROUND: In Sardinia the mutational spectrum of CFTR gene is well defined. A mutation detection rate of 94% can be achieved by screening for 15 CFTR mutations with a frequency higher than 0.5%. The efficiency of this molecular test suggests that Sardinians may represent a suitable population for a preconceptional screening. METHODS: Five hundred couples of Sardinia descent were screened for 38 mutations using...

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Identifiers

PMID: 21429822
DOI: 10.1016/j.jcf.2011.02.006

Genes

CFTR

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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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