Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.
Chillón
M
M
Molecular Genetics Department, Duran i Reynals Hospital, Barcelona, Spain.
Palacio
A
A
Nunes
V
V
Casals
T
T
Giménez
J
J
Estivill
X
X
D001483:Base Sequence; D003062:Codon / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D016133:Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion; D013030:Spain / Q000208:ethnology
C505032:CFTR protein, human; D003062:Codon; D008565:Membrane Proteins; D009838:Oligodeoxyribonucleotides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator