A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation

A case of CADASIL caused by NOTCH3 c.512_605delinsA heterozygous mutation

Background: Autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebrovascular disease closely related to the NOTCH3 gene. More than 200 mutations in this gene have been reported to be associated with this disease. Methods: The NOTCH3 gene from CADASIL p...

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Bibliographic Details
Main Authors: Cao, H. (Author), Dong, H. (Author), Dong, X. (Author), Ji, X. (Author), Liu, J. (Author), Luan, S. (Author), Tao, D. (Author), Wang, Q. (Author), Zhang, Q. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2021
Subjects:
adenine
adult
Article
basal ganglion
brain
Brain
brain infarction
brain stem
CADASIL
case report
clinical article
cytosine
diagnostic imaging
dizziness
DNA extraction
exon
facial nerve paralysis
female
Female
gene amplification
gene mutation
genetic analysis
genetics
genomic DNA
guanine
heterozygote
Heterozygote
human
Humans
indel mutation
INDEL Mutation
leukoencephalopathy
limb weakness
lower limb
medical history
microbleeds
middle aged
Middle Aged
middle cerebral artery
muscle strength
muscle tone
NOTCH3
NOTCH3 gene
NOTCH3 protein, human
Notch3 receptor
nuclear magnetic resonance imaging
pathology
physical examination
polymerase chain reaction
Receptor, Notch3
Sanger sequencing
thalamus
thymine
whole exome sequencing
Whole Exome Sequencing
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