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A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.

A cystic fibrosis patient with the genotype G542X/1717-1 (G----A) was identified by DNA sequencing of exon 11 of the CFTR gene. The available molecular and clinical data are presented. This is the first report of a patient with this rare genotype and may serve to improve our understanding of allele...

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Détails bibliographiques
Auteurs principaux: Schloesser, M, Arleth, S, Lenz, U, Bertele, R M, Reiss, J
Format: Artigo
Langue:Inglês
Publié: 1991
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017168/
https://ncbi.nlm.nih.gov/pubmed/1757966
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