Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 84, Issue 12, 2013, Pages 1411-1412

  Rohrer, Jonathan D ^a   Beck, Jonathan ^a   Plagnol, Vincent ^b   Gordon, Elizabeth ^a   Lashley, Tammaryn ^a   Revesz, Tamas ^a   Janssen, John C ^c   Fox, Nick C ^a   Warren, Jason D ^a   Rossor, Martin N ^a   Mead, Simon ^a   Schott, Jonathan M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; TAU PROTEIN;

5' UNTRANSLATED REGION; BRAIN ATROPHY; BRAIN MAPPING; C9ORF72 GENE; CHROMOSOME 17; COPY NUMBER VARIATION; DISEASE COURSE; DNA SEQUENCE; EXOME; EXON; FAMILY HISTORY; FRONTOTEMPORAL DEMENTIA; GENE; GENE DELETION; GENETIC ASSOCIATION; GRN GENE; HETEROZYGOSITY; HUMAN; LETTER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARS OPERCULARIS; PRIMARY PROGRESSIVE APHASIA; PRIORITY JOURNAL; PSYCHOPATHY; SEQUENCE ANALYSIS; SPEECH DISORDER;

EID: 84888022902     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-306116     Document Type: Letter

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