title: Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.
abstract: Truncating mutations in the CCM1 gene encoding KRIT1 were recently found in patients affected by inherited cerebral capillary malformations, lesions that cause a wide variety of neurologic problems. However, CCM1 mutations have not been identified in all the families linked to CCM1. Here we demonstrate that the CCM1 gene contains eight additional exons which may thus encompass the missing mutations.
authors.affiliation: Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Avenue Hippocrate 75 +4, B-1200, Brussels, Belgium. iiro@bchm.ucl.ac.be
authors.forename: I
authors.initials: I
authors.lastname: Eerola
authors.forename: B
authors.initials: B
authors.lastname: McIntyre
authors.forename: M
authors.initials: M
authors.lastname: Vikkula
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D020785:Central Nervous System Vascular Malformations / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons; D020224:Expressed Sequence Tags; D006801:Humans; D000075927:KRIT1 Protein; D051379:Mice; D008869:Microtubule-Associated Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051381:Rats; D012689:Sequence Homology, Nucleic Acid
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; C491535:Krit1 protein, mouse; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins