Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

Subjects

Subjects :

Alleles
Cystic Fibrosis pathology
DNA chemistry
DNA genetics
DNA Mutational Analysis
Europe
Female
Genotype
Haplotypes
Homozygote
Humans
Male
Phenotype
Point Mutation
Severity of Illness Index
Alternative Splicing genetics
Cystic Fibrosis genetics
Cystic Fibrosis Transmembrane Conductance Regulator genetics
Sequence Deletion genetics

Details

Language :

English

ISSN :

1468-6244

Volume :

38

Issue :

11

Database :

MEDLINE

Journal :

Journal of medical genetics

Publication Type :

Report

Accession number :

11732487

Full Text :

https://doi.org/10.1136/jmg.38.11.777