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Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4
Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as display...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375449/ https://www.ncbi.nlm.nih.gov/pubmed/25728773 http://dx.doi.org/10.1016/j.ajhg.2015.01.005 |