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MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)

OBJECTIVE: To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded. METHODS: We collected DNA samples of 28 family members, including 7 living affected individual...

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Vydáno v:Neurol Genet
Hlavní autoři: Depondt, Chantal, Donatello, Simona, Rai, Myriam, Wang, François Charles, Manto, Mario, Simonis, Nicolas, Pandolfo, Massimo
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4991603/
https://ncbi.nlm.nih.gov/pubmed/27583304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000094
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