Phenotypical difference of Amyloid Precursor Protein (APP) V717L mutation in Japanese family

BMC Neurology

Volumn 12, Issue , 2012, Pages

  Abe, Masao ^a   Sonobe, Naomi ^a   Fukuhara, Ryuji ^a   Mori, Yoko ^a   Ochi, Shinichiro ^a   Matsumoto, Teruhisa ^a   Mori, Takaaki ^a,b   Tanimukai, Satoshi ^a   Ueno, Shu ichi ^a  

^a EHIME UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL INSTITUTE OF RADIOLOGICAL SCIENCES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID PRECURSOR PROTEIN; LEUCINE; VALINE;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; AMNESIA; ARTICLE; BRAIN ATROPHY; BRAIN CORTEX; CASE REPORT; CLINICAL FEATURE; CONCENTRATION LOSS; DISEASE SEVERITY; EXON; FAMILY ASSESSMENT; GAIT DISORDER; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HEREDITY; HIPPOCAMPUS; HOSPITAL ADMISSION; HUMAN; JAPANESE; MALE; MEMORY DISORDER; MINI MENTAL STATE EXAMINATION; MYOCLONUS SEIZURE; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; SCORING SYSTEM; SEIZURE; SHORT TERM MEMORY; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ADULT; ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84862184647     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-12-38     Document Type: Article

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