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Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL

✍ Scribed by Youngho Kim; Jong Sung Kim; Guhwan Kim; Young Joo No; Han-Wook Yoo


Book ID
113808746
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
262 KB
Volume
593
Category
Article
ISSN
0027-5107

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CADASIL: Extended polymorphisms and muta
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## Abstract CADASIL is a cerebrovascular disease caused by mutations in the NOTCH3 gene. Most mutations result in a gain or loss of cysteine residue in one of the 34 epidermal growth factor‐like repeats in the extracellular domain of the Notch3 protein, thus sparing the number of cysteine residues.