Genetic, structural and clinical analysis of spastic paraplegia 4
Parizad Varghaei, Mehrdad A. Estiar, Setareh Ashtiani, Simon Veyron, Kheireddin Mufti, Etienne Léveillé, Eric Yu, Dan Spiegelman, Marie‐France Rioux, Grace Yoon, Mark A. Tarnopolsky, Kym M. Boycott, Nicolas Dupré, Oksana Suchowersky, Jean‐François Trempe, Guy A. Rouleau, Ziv Gan‐Or
Topics & Concepts
Hereditary spastic paraplegiaGeneticsMultiplex ligation-dependent probe amplificationMutationGenetic heterogeneityGenotypeCopy-number variationBiologyExome sequencingGeneMedicinePhenotypeExonGenomeHereditary Neurological DisordersNeurofibromatosis and Schwannoma CasesPeripheral Neuropathies and Disorders