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
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