A novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family

Neurobiology of Aging

Volumn 35, Issue 10, 2014, Pages 2420.e1-2420.e5

  Niu, Fusheng ^a   Yu, Shanshan ^b   Zhang, Zhenxin ^a   Yi, Xin ^b   Ye, Lili ^b   Tang, Wei ^b   Qiu, Changchun ^c   Wen, Hongbo ^a   Sun, Yujing ^c   Gao, Jing ^a   Guo, Yupu ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b BGI SHENZHEN   (China)

^c INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

Alzheimer's disease; APOE genotype; Chinese Han family; N141Y mutation; PSEN2; Target region sequencing

Indexed keywords

APOLIPOPROTEIN E; ASPARAGINE; PRESENILIN 2; TYROSINE; CODON; PSEN2 PROTEIN, HUMAN;

ADULT; ALZHEIMER DISEASE; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHINESE; CODON; DEMENTIA; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; MISSENSE MUTATION; NEUROPATHOLOGY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PSEN2 GENE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; DOMINANT GENE; GENETIC ASSOCIATION; GENETICS; MALE; MIDDLE AGED;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; ASPARAGINE; CODON; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PRESENILIN-2; TYROSINE;

EID: 84903821261     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2014.04.011     Document Type: Article

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