Identification of a frameshift mutation (557 del T) in exon 4 of the CFTR gene.
Graham
C A
CA
Regional Genetics Centre, Belfast City Hospital, Northern Ireland.
Goon
P K
PK
Hill
A J
AJ
Nevin
N C
NC
D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation
C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator