PEN-2 gene mutation in a familial Alzheimer's disease case

Journal of Neurology

Volumn 252, Issue 9, 2005, Pages 1033-1036

  Frigerio, Carlo Sala ^a   Piscopo, Paola ^b   Calabrese, Elena ^c   Crestini, Alessio ^b   Campeggi, Lorenzo Malvezzi ^b   Di Fava, Rita Civita ^b   Fogliarino, Sergio ^a   Albani, Diego ^a   Marcon, Gabriella ^d   Cherchi, Rosella ^e   Piras, Rita ^e   Forloni, Gianluigi ^a   Confaloni, Annamaria ^b  

^a MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^d UNIVERSITY OF UDINE   (Italy)

^e UNIVERSITY OF SASSARI   (Italy)

Author keywords

amyloid; secretase; Genetics; Mutation

Indexed keywords

APOLIPOPROTEIN E4; PRESENILIN ENHANCER 2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; EMBRYO; FAMILIAL DISEASE; FEMALE; GENE SEQUENCE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; ALZHEIMER DISEASE; AMYLOID PRECURSOR PROTEIN SECRETASES; BASE SEQUENCE; BLOTTING, WESTERN; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 25144453307     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-005-0799-7     Document Type: Article

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