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1Johnson EW, Iyer LM, Rich SS, et al. Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. Genome Res, 1995, 5(4): 368-380.
2Gunel M, Awad IA, Finberg K, et al. A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med, 1996, 334(15): 946-951
4Gunel M, Awad IA, Anson J, et al. Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci USA,1995, 92(14): 6620-6624.
5Siegel AM, Andermann F, Badhwar A, et al. Anticipation in familial cavernous angioma: ascertainment bias or genetic cause.Acta Neurol Scand, 1998, 98(6): 372-376.
6Dubovsky J, Zabramski JM, Kurth J, et al. A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet, 1995, 4(3): 453-458.
7Laberge-le Couteulx S, Jung HH, Labauge P, et al. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet, 1999, 23(2): 189-193.
8Serebriiskii I, Estojak J, Sonoda G, et al. Association of Krev-1/rap1a with Kritl, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22. Oncogene, 1997, 15(9): 1043-1049.
9Clatterbuck RE, Eberhart CG, Crain RJ, et al. Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations. J Neurol Neurosurg Psychiatry, 2001, 71(2): 188-192.
10Eerola I, Plate KH, Spiegel R, et al. KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capikkary malformation, Hum Mol Genet, 2000, 9(9): 1351-1355.
