Strom, Charles M

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test. [electronic resource] - Genetics in medicine : official journal of the American College of Medical Genetics - 9-14 p. digital

Publication Type: Journal Article; Validation Study

1098-3600

10.1097/00125817-200301000-00002 doi


Codon--genetics
Cystic Fibrosis--diagnosis
Cystic Fibrosis Transmembrane Conductance Regulator--genetics
DNA--genetics
DNA Mutational Analysis--methods
Exons
Genetic Testing
Humans
Introns
Molecular Sequence Data
Mutation