Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

Human Mutation

Volumn 29, Issue 4, 2008, Pages 512-521

  Mukherjee, Odity ^a   Wang, Jun ^a   Gitcho, Michael ^a   Chakraverty, Sumi ^a   Taylor Reinwald, Lisa ^a   Shears, Shantia ^a   Kauwe, John S K ^a   Norton, Joanne ^a   Levitch, Denise ^a   Bigio, Eileen H ^b   Hatanpaa, Kimmo J ^c   White, Charles L ^c   Morris, John C ^a   Cairns, Nigel J ^a   Goate, Alison ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Frontotemporal dementia; FTD; Granulin; GRN; PGRN; Progranulin

Indexed keywords

MESSENGER RNA; PROGRANULIN; SIGNAL PEPTIDASE; UBIQUITIN; SIGNAL PEPTIDE; GRN PROTEIN, HUMAN; PRIMER DNA; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SEQUENCE; APHASIA; ARTICLE; BEHAVIOR DISORDER; CELL FRACTIONATION; CELL INCLUSION; CHROMOSOME 17; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; EXON; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENETIC SCREENING; GRN GENE; HUMAN; HYDROPHOBICITY; IMAGE ANALYSIS; INTRON; LANGUAGE DISABILITY; MISSENSE MUTATION; MOLECULAR CLONING; MOTOR NEURON DISEASE; NUCLEIC ACID BASE SUBSTITUTION; PERSONALITY DISORDER; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; CELLULAR DISTRIBUTION; GENE SEQUENCE; GENETIC CODE; HAPLOINSUFFICIENCY; MAJOR CLINICAL STUDY; NEUROPATHOLOGY; PREVALENCE; UNITED STATES; BRAIN; CASE CONTROL STUDY; CELL LINE; CEREBROSPINAL FLUID; DEMENTIA; FEMALE; FOUNDER EFFECT; GENETIC TRANSFECTION; GENETICS; MALE; METABOLISM; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; RNA SPLICING;

AGE OF ONSET; AGED; BASE SEQUENCE; BRAIN; CASE-CONTROL STUDIES; CELL LINE; DEMENTIA; DNA PRIMERS; FEMALE; FOUNDER EFFECT; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; SUBCELLULAR FRACTIONS; TRANSFECTION;

EID: 42049108445     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20681     Document Type: Article

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