Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Journal of the Neurological Sciences

Volumn 319, Issue 1-2, 2012, Pages 37-41

  Testi, S ^a   Malerba, G ^b   Ferrarini, M ^a   Ragno, M ^c   Pradotto, L ^d   Mauro, A ^e   Fabrizi, G M ^a  

^a UNIVERSITY OF VERONA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c C and G Mazzoni Hospital   (Italy)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^e UNIVERSITY OF TURIN   (Italy)

Author keywords

ASPE; CADASIL; Founder effect; NOTCH3 haplotypes; NOTCH3 mutations

Indexed keywords

NOTCH3 RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CADASIL; CONTROLLED STUDY; EXON; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NOTCH3 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CADASIL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FOUNDER EFFECT; GENOTYPE; HAPLOTYPES; HUMANS; ITALY; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, NOTCH;

EID: 84862764164     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.05.025     Document Type: Article

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