title: Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
authors: Institute of Cellular Pathology, Université Catholique de Louvain, Laboratory of Human Molecular Genetics, Brussels, Belgium. Nisha.Limaye@bchm.ucl.ac.be
authors: Nisha
authors: N
authors: Limaye
authors: N
authors: N
authors: Revencu
authors: N
authors: N
authors: Van Regemorter
authors: M
authors: M
authors: Garzon
authors: M
authors: M
authors: Bonduelle
authors: W
authors: W
authors: Chung
authors: M D
authors: MD
authors: Daras
authors: M C
authors: MC
authors: Fahey
authors: C
authors: C
authors: Garrett
authors: Y
authors: Y
authors: Gillerot
authors: G
authors: G
authors: Gillessen-Kaesbach
authors: A
authors: A
authors: Giménez-Arnau
authors: F
authors: F
authors: Guzzetta
authors: D
authors: D
authors: Battaglia
authors: K
authors: K
authors: Heimda
authors: W
authors: W
authors: Lissens
authors: E
authors: E
authors: Taub
authors: L
authors: L
authors: Van Maldergem
authors: W
authors: W
authors: Van Paesschen
authors: D
authors: D
authors: Wieczorek
authors: N W
authors: NW
authors: Wood
authors: L
authors: L
authors: Boon
authors: M
authors: M
authors: 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*; D012326:RNA Splicing
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins