Your browser doesn't support javascript.
loading
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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-27307223
Assuntos
Palavras-chave
Buscar no Google
Imprimir
XML
PubMed Links

Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Ataxia Cerebelar / Deficiências do Desenvolvimento / Mutação Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Buscar no Google
Imprimir
XML
PubMed Links

Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas / Ataxia Cerebelar / Deficiências do Desenvolvimento / Mutação Limite: Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article