Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation
- 1 June 2002
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 70 (6) , 1564-1567
- https://doi.org/10.1086/340604
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Cerebral cavernous malformationsNeurology, 2002
- Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformationHuman Molecular Genetics, 2001
- Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 2001
- Computational and Experimental Analyses Reveal Previously Undetected Coding Exons of the KRIT1 (CCM1) GeneGenomics, 2001
- Cloning of the Murine Krit1 cDNA Reveals Novel Mammalian 5′ Coding ExonsGenomics, 2000
- Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)Human Molecular Genetics, 1999
- A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two FamiliesGenomics, 1995
- Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.Proceedings of the National Academy of Sciences, 1995
- A gene responsible for cavernous malformations of the brain maps to chromosome 7qHuman Molecular Genetics, 1995
- Cerebral Cavernous MalformationsNew England Journal of Medicine, 1988