A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

doi:10.1016/j.jcf.2011.06.011

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Article

A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice.

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

Costa Catherine, Pruliere-Escabasse Virginie, de Becdelievre Alix, Gameiro Christine, Golmard Lisa, Guittard Caroline, Bassinet Laurence, Bienvenu Thierry, Georges Marie Des, Epaud Ralph, Bieth Eric, Giurgea Irina, Aissat Abdel, Hinzpeter Alexandre, Costes Bruno, Fanen Pascale, Goossens Michel, Claustres Mireille, Coste André, Girodon Emmanuelle

Abstract excerpt

BACKGROUND: The identification by CFTR mRNA studies of a new deep-intronic splicing mutation, c.870-1113_1110delGAAT, in one patient of our series with mild CF symptoms and in three CF patients of an Italian study, led us to evaluate the mutation frequency and phenotype/genotype correlations. METHODS: 266 patients with CF and related disorders and having at least one undetected mutation, were tested at the gDNA...

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PMID: 21783433
DOI: 10.1016/j.jcf.2011.06.011

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CFTR

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