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CLN8 disease caused by large genomic deletions.
Beesley, Clare; Guerreiro, Rita J; Bras, Jose T; Williams, Ruth E; Taratuto, Ana Lia; Eltze, Christin; Mole, Sara E.
Affiliation
  • Beesley C; Regional Genetics Laboratory Great Ormond Street Hospital London WC1N 3BH UK.
  • Guerreiro RJ; Department of Molecular NeuroscienceInstitute of NeurologyUniversity College LondonQueen SquareLondonWC1N 3BGUK; Department of Medical Sciences and Institute of Biomedicine - iBiMEDUniversity of AveiroAveiro3810-193Portugal.
  • Bras JT; Department of Molecular NeuroscienceInstitute of NeurologyUniversity College LondonQueen SquareLondonWC1N 3BGUK; Department of Medical Sciences and Institute of Biomedicine - iBiMEDUniversity of AveiroAveiro3810-193Portugal.
  • Williams RE; Children's Neurosciences Evelina London Children's Hospital Westminster Bridge Road London SE1 7EH UK.
  • Taratuto AL; Institute for Neurological Research Montañeses 2325 Buenos Aires Argentina.
  • Eltze C; Neurology Department Great Ormond Street Hospital Great Ormond Street London WC1N 3JH UK.
  • Mole SE; MRC Laboratory for Molecular Cell Biology Genetics and Genomics Medicine Unit Department of Genetics, Evolution and Environment Institute of Child Health University College London Gower Street London WC1E 6BT UK.
Mol Genet Genomic Med ; 5(1): 85-91, 2017 Jan.
Article in En | MEDLINE | ID: mdl-28116333

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Genomic Med Year: 2017 Document type: Article Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Mol Genet Genomic Med Year: 2017 Document type: Article Country of publication: United States