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

AUTOR(ES)

Schloesser, M

RESUMO

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 interactions.

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