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A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.
Dziurdzik, Samantha K; Bean, Björn D M; Davey, Michael; Conibear, Elizabeth.
Affiliation
  • Dziurdzik SK; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
  • Bean BDM; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
  • Davey M; Department of Biology, Concordia University, Montreal, QC H3G 1M8, Canada.
  • Conibear E; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.
Hum Mol Genet ; 29(4): 635-648, 2020 03 13.
Article in En | MEDLINE | ID: mdl-31943017
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Saccharomyces cerevisiae / Proteins / Cell Membrane / Optic Atrophy / Spinocerebellar Ataxias / Saccharomyces cerevisiae Proteins / Intellectual Disability / Muscle Spasticity / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country:
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Add to My VHL
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Saccharomyces cerevisiae / Proteins / Cell Membrane / Optic Atrophy / Spinocerebellar Ataxias / Saccharomyces cerevisiae Proteins / Intellectual Disability / Muscle Spasticity / Mutation Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: