Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye
Nisha
N
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
Revencu
N
N
Van Regemorter
N
N
Garzon
M
M
Bonduelle
M
M
Chung
W
W
Daras
M D
MD
Fahey
M C
MC
Garrett
C
C
Gillerot
Y
Y
Gillessen-Kaesbach
G
G
Giménez-Arnau
A
A
Guzzetta
F
F
Battaglia
D
D
Heimdal
K
K
Lissens
W
W
Taub
E
E
Van Maldergem
L
L
Van Paesschen
W
W
Wieczorek
D
D
Wood
N W
NW
Boon
L
L
Vikkula
M
M
D001483:Base Sequence; D016543:Central Nervous System Neoplasms / Q000235:genetics*; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics*; D006801:Humans; D000075927:KRIT1 Protein; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D017384:Sequence Deletion
D003062:Codon; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins; D004247:DNA