A cystic fibrosis patient with delta F508, G542X and a deletion at the D7S8 locus.
Wagner
K
K
Institute of Medical Biology and Human Genetics, University of Graz, Austria.
Greil
I
I
Schneditz
P
P
Pommer
M
M
Rosenkranz
W
W
D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion
C505032:CFTR protein, human; D017931:DNA Primers; D005819:Genetic Markers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific