A missense cystic fibrosis transmembrane conductance regulator mutation with variable phenotype.

Keyphrases

• Forced Expiratory Volume in 1 Second (FEV1) 100%
• Missense 100%
• Cystic Fibrosis Transmembrane Conductance Regulator 100%
• Variable Phenotype 100%
• Sweat Chloride 66%
• Exon 9 66%
• Clinical Presentation 66%
• In(III) 33%
• Disease Groups 33%
• CFTR mutations 33%
• Splicing mutation 33%
• W1282X 33%
• Non-associated 33%
• Genotype 33%
• Polythymidine 33%
• High Variability 33%
• Acceptor Site 33%
• Genotype-phenotype Analysis 33%
• Meconium Ileus 33%
• Mutation Type 33%
• Mild mutation 33%
• Skipping 33%
• Disease Severity 33%
• Cystic Fibrosis 33%
• Pancreatic Sufficiency 33%
• Extended Family 33%
• Phenotypic Variation 33%
• Mild Disease 33%
• Clinical Parameters 33%
• Adjusted Means 33%
• Age-adjusted 33%
• ΔF508 33%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• Forced Expiratory Volume 100%
• Cystic Fibrosis Transmembrane Conductance Regulator 100%
• Exon 66%
• Genotyping 66%
• Allele 33%
• Intron 33%
• Cystic Fibrosis 33%
• Binding Site 33%