A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease

Neurogenetics

Volumn 4, Issue 2, 2002, Pages 97-104

  Bertoli Avella, A M ^a,b   Marcheco Teruel, B ^b   Llibre Rodriguez, J J ^c   Gomez Viera, N ^d   Borrajero Martinez, I ^d   Severijnen, E A ^a   Joosse, M ^a   Van Duijn, C M ^a   Heredero Baute, L ^b   Heutink, P ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b INSTITUTO SUPERIOR DE CIENCIAS MÉDICAS DE LA HABANA   (Cuba)

^c HOSPITAL MILITAR CENTRAL DR CARLOS J FINLAY   (Cuba)

^d HOSPITAL CLINICOQUIRÚRGICO HERMANOS AMEIJEIRAS   (Cuba)

Author keywords

Alzheimer disease; Familial Alzheimer disease; L174 M; Presenile dementia; PSEN1 mutation

Indexed keywords

AMYLOID; LEUCINE; METHIONINE; PRESENILIN 1; PRESENILIN 2;

ADULT; AGED; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 1; CHROMOSOME 12; CHROMOSOME 14; CHROMOSOME 17; CHROMOSOME 19; CHROMOSOME 20; CHROMOSOME 21; CHROMOSOME 3; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ETHNIC GROUP; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; ISCHEMIA; MALE; MEMORY DISORDER; NERVE CELL DEGENERATION; NEUROFILAMENT; NEUROPATHOLOGY; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AGE OF ONSET; ALZHEIMER DISEASE; AMINO ACID SEQUENCE; APOLIPOPROTEINS E; CONSERVED SEQUENCE; CUBA; FAMILY HEALTH; FEMALE; GENETIC MARKERS; GENOTYPE; HISPANIC AMERICANS; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; PRESENILIN-1;

EID: 0036818747     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-002-0136-6     Document Type: Article

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