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Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; Plagnol, V; (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. NEUROLOGY , 79 (2) pp. 127-131. Gold open access

Type: Article
Title: Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
Open access status: An open access publication
Keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, CLINICAL NEUROLOGY, DOMINANT CEREBELLAR ATAXIAS, CAG REPEAT, POLYGLUTAMINE EXPANSIONS, TRINUCLEOTIDE REPEAT, MUTATIONS, REVEALS, PROTEIN, REGION, GENE
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
URI: http://discovery.ucl.ac.uk/id/eprint/1349544
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