Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference14 articles.
1. Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation at 7p15-13 and 3q25.2-27;Craig;Hum Mol Genet,1998
2. CCM1 gene mutations in families segregating cerebral cavernous malformations;Davenport;Neurology,2001
3. A gene responsible for cavernous malformations of the brain maps to chromosome 7q;Dubovsky;Hum Mol Genet,1995
4. Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding Krit1;Eerola;Biochim Biophys Acta,2001
5. Mapping a gene causing cerebral cavernous malformations to 7q11.2-921;Günel;Proc Natl Acad Sci USA,1995
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1. KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants;Journal of Molecular Neuroscience;2021-03-02
2. Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene;Human Mutation;2020-04-14
3. Cerebral Cavernous Malformations, Molecular Biology, and Genetics;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2020
4. Molecular Biology of CCM;Cavernomas of the CNS;2020
5. Alternatively spliced isoforms reveal a novel type of PTB domain in CCM2 protein;Scientific Reports;2019-11-01
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