title: Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
authors.affiliation: Institute of Cellular Pathology, Université Catholique de Louvain, Laboratory of Human Molecular Genetics, Avenue Hippocrate 74(+5), bp. 75.39, B-1200, Brussels, Belgium. Nisha.Limaye@bchm.ucl.ac.be
authors.forename: Nisha
authors.initials: N
authors.lastname: Limaye
authors.forename: N
authors.initials: N
authors.lastname: Revencu
authors.forename: N
authors.initials: N
authors.lastname: Van Regemorter
authors.forename: M
authors.initials: M
authors.lastname: Garzon
authors.forename: M
authors.initials: M
authors.lastname: Bonduelle
authors.forename: W
authors.initials: W
authors.lastname: Chung
authors.forename: M D
authors.initials: MD
authors.lastname: Daras
authors.forename: M C
authors.initials: MC
authors.lastname: Fahey
authors.forename: C
authors.initials: C
authors.lastname: Garrett
authors.forename: Y
authors.initials: Y
authors.lastname: Gillerot
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: A
authors.initials: A
authors.lastname: Giménez-Arnau
authors.forename: F
authors.initials: F
authors.lastname: Guzzetta
authors.forename: D
authors.initials: D
authors.lastname: Battaglia
authors.forename: K
authors.initials: K
authors.lastname: Heimdal
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: E
authors.initials: E
authors.lastname: Taub
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: W
authors.initials: W
authors.lastname: Van Paesschen
authors.forename: D
authors.initials: D
authors.lastname: Wieczorek
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: L
authors.initials: L
authors.lastname: Boon
authors.forename: M
authors.initials: M
authors.lastname: Vikkula
mesh_terms: D016543:Central Nervous System Neoplasms / Q000235:genetics*; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics*; D006801:Humans; D007438:Introns; D000075927:KRIT1 Protein; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D017354:Point Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D022821:RNA Splice Sites; D012326:RNA Splicing / Q000235:genetics
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins; D022821:RNA Splice Sites