Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency
- PMID: 7509684
- DOI: 10.1002/humu.1380030112
Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency
Similar articles
-
Identification of a new frameshift mutation (3724 delG) in exon 19 of the CFTR gene.Hum Mutat. 1994;3(1):69-70. doi: 10.1002/humu.1380030113. Hum Mutat. 1994. PMID: 7509685 No abstract available.
-
Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.Hum Mutat. 1992;1(6):501-2. doi: 10.1002/humu.1380010608. Hum Mutat. 1992. PMID: 1284542 No abstract available.
-
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Hum Mutat. 1992;1(5):380-7. doi: 10.1002/humu.1380010506. Hum Mutat. 1992. PMID: 1284540
-
[Molecular basis of cystic fibrosis].Postepy Biochem. 1991;37(3-4):153-8. Postepy Biochem. 1991. PMID: 1725923 Review. Polish. No abstract available.
-
No way out.Nat Genet. 1992 Aug;1(5):311-2. doi: 10.1038/ng0892-311. Nat Genet. 1992. PMID: 1284547 Review. No abstract available.
Cited by
-
Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore.Biophys J. 1998 Mar;74(3):1320-32. doi: 10.1016/S0006-3495(98)77845-2. Biophys J. 1998. PMID: 9512029 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical