A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epithelial CFTR mRNA

1 November 1993

journal article
case report
Published by Oxford University Press (OUP) in Human Molecular Genetics

Vol. 2 (11) , 1965-1966
https://doi.org/10.1093/hmg/2.11.1965

Abstract

Thilo Dork, Katrin Will, Annette Demmer, Burkhard Tummler; A donor splice mutation (405 + 1 G → A) in cystic fibrosis associated with exon skipping in epitheli

Keywords

CFTR
EPITHELIAL
SPLICE MUTATION
DONOR SPLICE
DEMMER
THILO
DORK
TUMMLER

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