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A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.
Cabet, Sara; Putoux, Audrey; Carneiro, Maryline; Labalme, Audrey; Sanlaville, Damien; Guibaud, Laurent; Lesca, Gaetan.
Affiliation
  • Cabet S; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; Department of Radiology, Groupement Hospitalier Est, Hospices Civils de Lyon, France.
  • Putoux A; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France.
  • Carneiro M; Department of Neurology, Groupement Hospitalier Est, Hospices Civils de Lyon, France.
  • Labalme A; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France.
  • Sanlaville D; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France.
  • Guibaud L; Department of Radiology, Groupement Hospitalier Est, Hospices Civils de Lyon, France.
  • Lesca G; Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France. Electronic address: gaetan.lesca@chu-lyon.fr.
Eur J Med Genet ; 62(10): 103726, 2019 Oct.
Article in En | MEDLINE | ID: mdl-31319223
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Sequence Deletion / Receptors, Metabotropic Glutamate / Alleles Limits: Child / Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: France Country of publication: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Sequence Deletion / Receptors, Metabotropic Glutamate / Alleles Limits: Child / Female / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: France Country of publication: Netherlands