Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report.
Liem
Michael K
MK
Lesnik Oberstein
Saskia A J
SA
Vollebregt
Magdalena J
MJ
Middelkoop
Huub A M
HA
van der Grond
Jeroen
J
Helderman-van den Enden
Apollonia T J M
AT
D000368:Aged; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch