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...

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Publicat a:Am J Hum Genet
Autors principals: Bras, Jose, Alonso, Isabel, Barbot, Clara, Costa, Maria Manuela, Darwent, Lee, Orme, Tatiana, Sequeiros, Jorge, Hardy, John, Coutinho, Paula, Guerreiro, Rita
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375449/
https://ncbi.nlm.nih.gov/pubmed/25728773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.01.005
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