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A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
Edvardson, Simon; Elbaz-Alon, Yael; Jalas, Chaim; Matlock, Ashanti; Patel, Krishna; Labbé, Katherine; Shaag, Avraham; Jackman, Jane E; Elpeleg, Orly.
Affiliation
  • Edvardson S; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Elbaz-Alon Y; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Jalas C; Department of Molecular and Cellular Biology, University of California, Davis, Davis, CA, 95616, USA.
  • Matlock A; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY, USA.
  • Patel K; Department of Chemistry and Biochemistry, Ohio State Biochemistry Program and Center for RNA Biology, The Ohio State University, Columbus, OH, USA.
  • Labbé K; Department of Chemistry and Biochemistry, Ohio State Biochemistry Program and Center for RNA Biology, The Ohio State University, Columbus, OH, USA.
  • Shaag A; Department of Molecular and Cellular Biology, University of California, Davis, Davis, CA, 95616, USA.
  • Jackman JE; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Elpeleg O; Department of Chemistry and Biochemistry, Ohio State Biochemistry Program and Center for RNA Biology, The Ohio State University, Columbus, OH, USA. jackman.14@osu.edu.
Neurogenetics ; 17(4): 219-225, 2016 10.
Article in En | MEDLINE | ID: mdl-27307223
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Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Cerebellar Ataxia / Developmental Disabilities / Mutation Limits: Female / Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2016 Type: Article Affiliation country: Israel
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Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Cerebellar Ataxia / Developmental Disabilities / Mutation Limits: Female / Humans / Male Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2016 Type: Article Affiliation country: Israel