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Article

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene.

Gene - 1 Jun 2012

Taulan Magali, Viart Victoria, Theze Corinne, Guittard Caroline, Altieri Jean-Pierre, Templin Carine, Mely Laurent, Claustres Mireille, des Georges Marie

Abstract excerpt

In European populations, large rearrangements contribute to approximately 2% of CF mutations. Here, we reported a novel duplication, the CFTRdup2, identified in a patient heterozygous for Phe508del and suffering from a mild CF. Using a combination of functional tests, we studied the impact of duplication/deletion on CFTR expression. We showed that the copy number variations of exon 2, in addition to abolishing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22484595
DOI: 10.1016/j.gene.2012.03.043

Genes

CFTR

Provenance

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