Intrafamilial clinical phenotypic heterogeneity with progranulin gene p.Glu498fs mutation

Journal of the Neurological Sciences

Volumn 316, Issue 1-2, 2012, Pages 189-190

  Larner, A J ^a  

^a WALTON CENTRE FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Diagnosis; GRN mutation; Heterogeneity; Phenotype; Progranulin

Indexed keywords

PROGRANULIN;

ADULT; APHASIA; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; FAMILY HISTORY; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; NEUROIMAGING; ONSET AGE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE APHASIA SYNDROME;

FEMALE; FRONTOTEMPORAL DEMENTIA; GLUTAMIC ACID; HAPLOINSUFFICIENCY; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE;

EID: 84859441807     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.01.005     Document Type: Article

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