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Locus and Allelic Heterogeneity in Five Families with Hereditary Spastic Paraplegia

Hereditary spastic paraplegias are a group of genetically heterogeneous neurological disorders characterized by progressive weakness and spasticity of lower limbs. We ascertained five families with eight individuals with hereditary spastic paraplegia. Pathogenic variants were identified by exome seq...

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Detaylı Bibliyografya
Yayımlandı:J Hum Genet
Asıl Yazarlar: Hebbar, Malavika, Shukla, Anju, Nampoothiri, Sheela, Bielas, Stephanie, Girisha, Katta M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6344291/
https://ncbi.nlm.nih.gov/pubmed/30337681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-018-0523-y
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