Article
High morbidity and mortality in cystic fibrosis patients compound heterozygous for 3905insT and deltaF508.
The European respiratory journal - 1 Jun 2001
Schibler A, Bolt I, Gallati S, Schöni M H, Kraemer R
Abstract excerpt
Genotype-phenotype association in cystic fibrosis (CF) is difficult because of heterogeneous disease expression. The genotype-phenotype correlation for the 3905insT mutation in comparison to deltaF508 was studied here. Thirty CF patients compound heterozygous for 3905insT were compared to clinical presentation of matched patients homozygous for deltaF508 (1960-1997). Sweat tests, age at diagnosis, at death and at...
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