Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Beetz, C; Zuchner, S; Ashley-Koch, A; Auer-Grumbach, M; Byrne, P; Chinnery, PF; Hutchinson, M; McDermott, CJ; Meijer, IA; Nygren, AO; Pericak-Vance, M; Pyle, A; Rouleau, GA; Schickel, J; Shaw, PJ; Deufel, T.
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
Hum Mutat. 2007; 28(7):739-740
Doi: 10.1002/humu.20508
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- Auer-Grumbach Michaela
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- Adenosine Triphosphatases - genetics
- Gene Deletion - genetics
- Humans - genetics
- Linkage (Genetics) - genetics
- Mutation - genetics
- Pedigree - genetics
- Spastic Paraplegia, Hereditary - genetics