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P2.63 Clinical and molecular genetic features of Korean patients with GNE mutations

โœ Scribed by Y.E. Park; H.S. Kim; E.S. Choi; S.Y. Kim; D.S. Kim

Book ID
116795067
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
45 KB
Volume
21
Category
Article
ISSN
0960-8966

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## Abstract Cerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal dominant condition, the latter being characterized by the presence of multiple CCM lesions. Stereotyped truncating mutations of