Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

The spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of disorders characterized by degeneration and loss of anterior horn cells in the spinal cord, leading to muscle weakness and atrophy. Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH, also know...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Renbaum, Paul, Kellerman, Efrat, Jaron, Ranit, Geiger, Dan, Segel, Reeval, Lee, Ming, King, Mary Claire, Levy-Lahad, Ephrat
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2009
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2725266/
https://ncbi.nlm.nih.gov/pubmed/19646678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.07.006
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