Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: An Alu core sequence-stimulated recombination?

European Journal of Human Genetics

Volumn 8, Issue 4, 2000, Pages 259-266

  Hiltunen, Mikko ^a   Helisalmi, Seppo ^b   Mannermaa, Arto ^b   Alafuzoff, Irina ^b   Koivisto, Anne Maria ^b   Lehtovirta, Maarit ^b   Pirskanen, Mia ^b   Sulkava, Raimo ^b   Verkkoniemi, Auli ^b   Soininen, Hilkka ^b  

^a KUOPIO UNIVERSITY HOSPITAL   (Finland)

^b NONE

Author keywords

Alu core sequence; Alzheimer's disease; Genomic deletion; Non homologous recombination; Presenilin 1; Substitution E318G

Indexed keywords

DNA; MESSENGER RNA; PRESENILIN 1;

ALU SEQUENCE; ALZHEIMER DISEASE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DNA RECOMBINATION; DNA SEQUENCE; EXON; FAMILY STUDY; FINLAND; GENE DELETION; HUMAN; HUMAN CELL; HUMAN TISSUE; NEUROPATHOLOGY; ONSET AGE; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

AGE OF ONSET; ALU ELEMENTS; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; FINLAND; FRONTAL LOBE; HAPLOTYPES; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; PRESENILIN-1; RECOMBINATION, GENETIC; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

GOSSYPIUM HIRSUTUM;

EID: 0034076439     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200423     Document Type: Article

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