Novel mutation of the Notch3 gene in a Japanese patient with CADASIL

European Journal of Neurology

Volumn 14, Issue 4, 2007, Pages 464-466

  Oki, K ^a   Nagata, E ^b   Ishiko, A ^a   Shimizu, A ^a   Tanaka, K ^c   Takahashi, K ^d   Tabira, T ^d   Katayama, T ^a   Suzuki, N ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Saitama Municipal Hospital   (Japan)

^c TOYAMA UNIVERSITY HOSPITAL   (Japan)

^d NATIONAL CENTER FOR GERIATRICS AND GERONTOLOGY   (Japan)

Author keywords

CADASIL; Cysteine; Disease onset; Exon2; Notch3

Indexed keywords

CYSTEINE; GLYCINE; NOTCH3 RECEPTOR;

ADULT; ARTICLE; CADASIL; CASE REPORT; ELECTRON MICROSCOPY; EXON; GENE MUTATION; HUMAN; JAPANESE; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN STRUCTURE; SKIN BIOPSY;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; CADASIL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MAGNETIC RESONANCE ANGIOGRAPHY; MAGNETIC RESONANCE IMAGING; MALE; MENIERE'S DISEASE; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, NOTCH; SKIN; TINNITUS; VERTIGO;

EID: 33947604733     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01641.x     Document Type: Article

References (9)

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