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Molecular spectrum and allelic frequency of different subtypes (1, 2, 3, 6 and 7) of Spinocerebellar ataxia in the Indian population

Spinocerebellar ataxia (SCA) is a rare, heterogeneous genetic group of disorders with overlapping clinical features that arises as a result of the degeneration of Purkinje cells. The most prominent clinical feature of SCA is difficulty with whole body movements. The aim of the current study was to a...

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Pubblicato in:Intractable Rare Dis Res
Autori principali: Vishwakarma, Priyanka, Agarwal, Sarita
Natura: Artigo
Lingua:Inglês
Pubblicazione: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6743434/
https://ncbi.nlm.nih.gov/pubmed/31523597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2019.01063
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