0386622 - ÚMG 2013 RIV GB eng J - Journal Article
Laššuthová, P. - Gregor, Martin - Sarnová, Lenka - Machalová, Eliška - Sedláček, Radislav - Seeman, P.
Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.
Journal od Neurogenetics. Roč. 26, 3-4 (2012), s. 413-420. ISSN 0167-7063. E-ISSN 1563-5260
R&D Projects: GA ČR GAP303/10/2044
Institutional support: RVO:68378050
Keywords : exon trapping * peripheral neuropathy * SH3TC2 gene * splice site mutation
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 2.159, year: 2012 ; AIS: 0.763, rok: 2012
DOI: https://doi.org/10.3109/01677063.2012.711398
Permanent Link: http://hdl.handle.net/11104/0216388