Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140

Hum Mutat. 1997;9(4):368-9. doi: 10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.0.CO;2-0.

Authors

C Clavel¹, F Pennaforte, F Pigeon, C Verlingue, P Birembaut, C Férec

Affiliation

¹ Laboratoire Pol-Bouin, INSERM U.314, C.H.R.U. Maison Blanche, Reims, France.

PMID: 9101301
DOI: 10.1002/(SICI)1098-1004(1997)9:4<368::AID-HUMU13>3.0.CO;2-0

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Child, Preschool
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
DNA Mutational Analysis
Female
France
Genes / genetics
Humans
Infant
Male
Mutation / genetics*

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator