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Article

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

Human genetics - 1 Dec 2005

McGinniss Matthew J, Chen Christina, Redman Joy B, Buller Arlene, Quan Franklin, Peng Mei, Giusti Robert, Hantash Feras M, Huang Donghui, Sun Weimin, Strom Charles M

Abstract excerpt

Cystic fibrosis (CF) is one of the most common monogenic diseases affecting Caucasians and has an incidence of approximately 1:3,300 births. Currently recommended screening panels for mutations in the responsible gene (CF transmembrane regulator gene, CFTR) do not detect all disease-associated mutations. Our laboratory offers extensive sequencing of the CFTR (ABCC7) gene (including the promoter, all exons and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16189704
DOI: 10.1007/s00439-005-0065-1

Genes

CFTR

Variants

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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