OMIM: 125310Inheritance: Autosomal dominant
Classification: Mental and behavioural disorders
Related informations: Orphanet   
Gene Tests   
Clinical Synopsis   
Clinical TrialsGene/Locus: |    NOTCH3 |
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Dna Change: |    c.1187C>G |
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Protein Change: |    p.Ser396Cys |
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Mutation Type: |    Substitution |
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Mutation Effect: |    Missense |
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Location: |    exon 7 |
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Transcript: |    NM_000435.2 |
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References
Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A, Fabrizi GM, Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).J. Neurol. Sci.. 2012; 319(1):37-41