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Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene
Im-Yong Yang, Mi-Sun Yum, Eun-Hee Kim, Hae-Won Choi, Han-Wook Yoo, Tae-Sung Ko
Clin Exp Pediatr. 2016;59(6):280-284.   Published online June 30, 2016
DOI: https://doi.org/10.3345/kjp.2016.59.6.280

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Two cases of familial cerebral cavernous malformation caused by mutations in theCCM1gene
Korean Journal of Pediatrics. 2016;59(6):280   Crossref logo
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A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation
Clinical Neurology and Neurosurgery. 2018;164:44-46   Crossref logo
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First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient
World Neurosurgery. 2020;142:481-486.e1   Crossref logo
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CCM1 gene deletion identified by MLPA in cerebral cavernous malformation
Neurosurgical Review. 2006;30(2):155-160   Crossref logo
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KRIT1 ankyrin repeat containing (KRIT1; CCM1); cerebral cavernous malformation 2 (CCM2); programmed cell death 10 (PDCD10; CCM3)
Science-Business eXchange. 2010;3(28):861-861   Crossref logo
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Two-hit mechanism in cerebral cavernous malformation? A case of monozygotic twins with a CCM1/KRIT1 germline mutation
Neurosurgical Review. 2013;36(3):483-486   Crossref logo
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Cerebral Cavernous Malformation: A Portuguese Family with a Novel CCM1 Mutation
Case Reports in Neurology. 2016;8(3):193-198   Crossref logo
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Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation
Brain Pathology. 2010;21(2):215-224   Crossref logo
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Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population
Journal of Molecular Neuroscience. 2016;61(1):8-15   Crossref logo
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A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family
Journal of Clinical Neuroscience. 2011;18(1):61-65   Crossref logo
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