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Article

WGA allows the molecular characterization of a novel large CFTR rearrangement in a black South African cystic fibrosis patient.

The Journal of molecular diagnostics : JMD - 1 Nov 2008

des Georges Marie, Guittard Caroline, Templin Carine, Altiéri Jean-Pierre, de Carvalho Candice, Ramsay Michele, Claustres Mireille

Abstract excerpt

By performing extensive scanning of whole coding and flanking sequences of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene, we had previously identified the CF-causing mutations in black South African patients of different ethnic groups suspected with the disease. Of ten samples analyzed, there were six remaining that had either one (n = 2) or two (n = 4) unidentified CFTR alleles that...

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Source

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Identifiers

PMID: 18832460
DOI: 10.2353/jmoldx.2008.080028
PMCID: PMC2570638

Genes

CFTR

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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