CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y).
Intern Med
; 45(16): 981-5, 2006.
Article
em En
| MEDLINE
| ID: mdl-16974063
ABSTRACT
We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a Notch3 monoclonal antibody is a beneficial method for the screening of CADASIL, particularly in the case of rare mutations outside the mutation hotspots in NOTCH3 as shown in this patient.
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Base de dados:
MEDLINE
Assunto principal:
Éxons
/
CADASIL
/
Receptores Notch
/
Mutação
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article