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Biallelic mutation of HSD17B4 induces middle age–onset spinocerebellar ataxia
OBJECTIVE: To determine the genetic underpinnings of slowly progressive spinocerebellar ataxia, autosomal recessive (SCAR), we performed exome analysis and examined the relationship between clinical severity and functional change induced by the mutation. METHODS: Homozygosity fingerprinting and exom...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975179/ https://www.ncbi.nlm.nih.gov/pubmed/32042923 http://dx.doi.org/10.1212/NXG.0000000000000396 |