CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y)

Internal Medicine

Volumn 45, Issue 16, 2006, Pages 981-985

  Ishida, Chiho ^a   Sakajiri, Ken Ichi ^b   Yoshita, Mitsuhiro ^a,b   Joutel, Anne ^c   Cave Riant, Florence ^c   Yamada, Masahito ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

^b Keiju Medical Center   (Japan)

^c HÔPITAL LARIBOISIÈRE   (France)

Author keywords

CADASIL; Exon 7; Mutation; NOTCH3

Indexed keywords

ALANINE; CYSTEINE; GLUTAMINE; MONOCLONAL ANTIBODY; NOTCH3 RECEPTOR; NUCLEOTIDE; THREONINE; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CADASIL; CASE REPORT; DIAGNOSTIC VALUE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; SKIN BIOPSY;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BIOPSY; CADASIL; EXONS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MICROSCOPY, ELECTRON; MUTATION; RECEPTORS, NOTCH; SKIN;

EID: 33748863126     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.45.1692     Document Type: Article

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