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Article

The true panel of cystic fibrosis mutations in the Sicilian population.

BMC medical genetics - 1 May 2020

Chamayou Sandrine, Sicali Maria, Lombardo Debora, Maglia Elena, Liprino Annalisa, Cardea Clementina, Fichera Michele, Venti Ermanno, Guglielmino Antonino

Abstract excerpt

BACKGROUND: The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population. METHODS: A longitudinal CFTR screening of 1279 Sicilian infertile patients for all CFTR mutations sequencing the entire gene by Next Generation Sequencing (NGS) was performed from patient's blood. RESULTS: One patient out of 16 was a carrier of a CFTR mutation. Twenty-four...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32357917
DOI: 10.1186/s12881-020-0958-9
PMCID: PMC7195759

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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