||Cystic Fibrosis carrier
||common in clinvar
Cystic fibrosis; c.3528delC, p.Lys1177Serfs
named i4000322 by 23andMe
[PMID 11388756] Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
[PMID 137921] Double-blind study of ipratropium bromide, a new anticholinergic bronchodilator.
[PMID 8889582] Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.
[PMID 10636451] Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.
[PMID 12865275] Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.
[PMID 15371903] CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.
[PMID 16051530] Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.