A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

doi:10.1136/jmg.31.5.369

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Article

A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

Journal of medical genetics - 1 May 1994

Chillón M, Casals T, Giménez J, Nunes V, Estivill X

Abstract excerpt

We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenoty...

Topics

Base Sequence
Child
Cystic Fibrosis
DNA Primers
Female
Frameshift Mutation
Genotype
Homozygote
Humans
Male
Molecular Sequence Data
Phenotype
Sequence Deletion

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