• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Arg347Pro (c.1040G>C); ClinVar=VCV000007110; Zygosity=Heterozygous (PubMed=19359498).
  
• Mutation; HGNC; HGNC:1884; CFTR; Simple; p.Gly551Asp (c.1652G>A); ClinVar=VCV000007120; Zygosity=Heterozygous (PubMed=19359498).
  

PubMed=14709668; DOI=10.1373/clinchem.2003.028068
Sebastian S., Spitzer S.G., Grosso L.E., Wilson J.A., Schaefer F.V., Lyon E., Wolff D.J., Hajianpour A., Taylor A.K., Millson A., Stenzel T.T.
Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.
Clin. Chem. 50:251-254(2004)

PubMed=19359498; DOI=10.2353/jmoldx.2009.080149; PMCID=PMC2671335
Pratt V.M., Caggana M., Bridges C., Buller-Burckle A.M., DiAntonio L., Highsmith W.E. Jr., Holtegaard L.M., Muralidharan K., Rohlfs E.M., Tarleton J.C., Toji L.H., Barker S.D., Kalman L.V.
Development of genomic reference materials for cystic fibrosis genetic testing.
J. Mol. Diagn. 11:186-193(2009)