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

doi:10.1136/jmg.28.12.878

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Article

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

Journal of medical genetics - 1 Dec 1991

Schloesser M, Arleth S, Lenz U, Bertele R M, Reiss J

Abstract excerpt

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 alle...

Topics

Amino Acid Sequence
Base Sequence
Cystic Fibrosis
DNA
DNA Mutational Analysis
Germany
Humans
Infant, Newborn
Male
Molecular Sequence Data
Mutation

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