Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
WAGNER, K; GREIL, I; SCHNEDITZ, P; POMMER, M; ROSENKRANZ, W.
A cystic fibrosis patient with delta F508, G542X and a deletion at the D7S8 locus.
HUM MUTAT. 1994; 3(3): 327-329.
Doi: 10.1002/humu.1380030328
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Wagner Klaus
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- Child, Preschool -
- Cystic Fibrosis - genetics
- Cystic Fibrosis Transmembrane Conductance Regulator - genetics
- DNA Primers - genetics
- Deoxyribonuclease HpaII - genetics
- Deoxyribonucleases, Type II Site-Specific - genetics
- Exons - genetics
- Female - genetics
- Genetic Markers - genetics
- Humans - genetics
- Linkage (Genetics) - genetics
- Male - genetics
- Membrane Proteins - genetics
- Pedigree - genetics
- Point Mutation - genetics
- Polymerase Chain Reaction - genetics
- Polymorphism, Restriction Fragment Length - genetics
- Sequence Deletion - genetics