IDENTIFICATION OF 2 NOVEL MUTATIONS (296-C AND A46D) IN EXON-2 OF THECFTR GENE IN GREEK CYSTIC-FIBROSIS PATIENTS(1G)

Authors
TZETIS M KANAVAKIS E ANTONIADI T TRAEGERSYNODINOS J DOUDOUNAKIS S ADAM G KATTAMIS C
Citation
M. Tzetis et al., IDENTIFICATION OF 2 NOVEL MUTATIONS (296-C AND A46D) IN EXON-2 OF THECFTR GENE IN GREEK CYSTIC-FIBROSIS PATIENTS(1G), Molecular and cellular probes, 9(4), 1995, pp. 283-285
Citations number
10
Categorie Soggetti
Cell Biology",Biology
Journal title
Molecular and cellular probes → ACNP
ISSN journal
08908508
Volume
9
Issue
4
Year of publication
1995
Pages
283 - 285
Database
ISI
SICI code
0890-8508(1995)9:4<283:IO2NM(>2.0.ZU;2-F
Abstract
Two novel CFTR mutations were detected in Creek cystic fibrosis patien ts. One was a missense mutation, A46D, and the other a splice mutation , 296+1G-C. Neither was detected on normal chromosomes. (C) 1995 Acade mic Press Limited