Associated Papers
Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view.
Chen Y et al.
Frontiers in Neuroscience, 2023
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
Fusco C et al.
Clinical Genetics, 2021
Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations.
Zhang F et al.
Frontiers in Neuroscience, 2020
33071727 (PubMed )
Supplement: Presentation_1.pdf
CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan.
Chang CW et al.
Scientific Reports, 2019
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.
Yang C et al.
Journal of Molecular Neuroscience : Mn, 2017
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