A novel frame-shift mutation in exon 4 of the cystic fibrosis gene (435insA) demonstrates the ambiguity of restriction analysis for mutation screening.
Kälin
N
N
Abteilung Biophysikalische Chemie, Medizinische Hochschule Hannover, Germany.
Dörk
T
T
Bozon
D
D
Tümmler
B
B
D000293:Adolescent; D001483:Base Sequence; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004252:DNA Mutational Analysis; D004262:DNA Restriction Enzymes; D004277:DNA, Single-Stranded; D005091:Exons; D016368:Frameshift Mutation; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
C505032:CFTR protein, human; D004277:DNA, Single-Stranded; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004262:DNA Restriction Enzymes