Novel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia

Alzheimer Disease and Associated Disorders

Volumn 24, Issue 4, 2010, Pages 397-401

  Ferrari, Raffaele ^a,e   Kapogiannis, Dimitrios ^c   Huey, Edward D ^c,d   Grafman, Jordan ^b   Hardy, John ^c,e   Momeni, Parastoo ^a  

^a TEXAS TECH UNIVERSITY   (United States)

^b National Institute of Neurological Disorders   (United States)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d NORTH SHORE HOSPITAL   (United States)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

CHMP2B; Dementia; FTD; Gene; Missense mutation

Indexed keywords

CYTOCHROME P450 2B; DNA; SERINE; CHMP2B PROTEIN, HUMAN; ESCRT PROTEIN;

AFRICAN AMERICAN; AGED; ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; EXON; FRONTOTEMPORAL DEMENTIA; GENE DELETION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN EXPERIMENT; MISSENSE MUTATION; MULTIVESICULAR BODY; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; CASE REPORT; FAMILY; GENETICS; MALE; MIDDLE AGED;

ENDOSOMAL SORTING COMPLEXES REQUIRED FOR TRANSPORT; FAMILY; FRONTOTEMPORAL DEMENTIA; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE;

EID: 78651401049     PISSN: 08930341     EISSN: None     Source Type: Journal    
DOI: 10.1097/WAD.0b013e3181df20c7     Document Type: Article

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