A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a DeltaF508 mutation

Hum Mutat. 1999 Sep 19;14(3):271. doi: 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU15>3.0.CO;2-N.

Authors

G Delaere¹, K Stuer, K Storm, P J Willems, W Van Hul

Affiliation

¹ Department of Medical Genetics, University of Antwerp (UIA), Antwerp, Belgium. [email protected]

PMID: 10477489
DOI: 10.1002/(SICI)1098-1004(1999)14:3<271::AID-HUMU15>3.0.CO;2-N

No abstract available

MeSH terms

Base Sequence
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Electrophoresis, Polyacrylamide Gel
Frameshift Mutation
Humans
Male
Polymerase Chain Reaction

Substances

CFTR protein, human
cystic fibrosis transmembrane conductance regulator delta F508
Cystic Fibrosis Transmembrane Conductance Regulator