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Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease.
Pierce, Sarah B; Gulsuner, Suleyman; Stapleton, Gail A; Walsh, Tom; Lee, Ming K; Mandell, Jessica B; Morales, Augusto; Klevit, Rachel E; King, Mary-Claire; Rogers, R Curtis.
Afiliación
  • Pierce SB; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington 98195, USA;
  • Gulsuner S; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington 98195, USA;
  • Stapleton GA; Greenwood Genetic Center, Greenville, South Carolina 29605, USA;
  • Walsh T; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington 98195, USA;
  • Lee MK; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington 98195, USA;
  • Mandell JB; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington 98195, USA;
  • Morales A; Pediatric Neurology, Greenville Health System, Greenville, South Carolina 29615, USA;
  • Klevit RE; Department of Biochemistry, University of Washington, Seattle, Washington 98195, USA;
  • King MC; Department of Medicine (Medical Genetics), University of Washington, Seattle, Washington 98195, USA;; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.
  • Rogers RC; Greenwood Genetic Center, Greenville, South Carolina 29605, USA;
Cold Spring Harb Mol Case Stud ; 2(4): a001107, 2016 Jul.
Article en En | MEDLINE | ID: mdl-27551684
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2016 Tipo del documento: Article