Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome

Introduction: Twinkle, the mitochondrial helicase encoded by C10orf2, serves a key function in mtDNA replication and its mutations associated with a broad spectrum of clinical conditions characterized by qualitative or quantitative defects of mtDNA, including infantile-onset spinocerebellar ataxia (...

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Detalhes bibliográficos
Autor principal: Nogueira, Célia (author)
Outros Autores: Marques, J.S. (author), Nesti, C. (author), Azevedo, A. (author), Di Lullo, M. (author), Meschini, M.C. (author), Orlacchio, A. (author), Videira, A. (author), Santorelli, F.M. (author), Vilarinho, L. (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2015
Assuntos:
Twinkle
Doenças Genéticas
Texto completo:http://hdl.handle.net/10400.18/2820
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2820

Texto Completo

http://hdl.handle.net/10400.18/2820

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