Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree.
Grigg
R
R
Genomics Research Centre, School of Health Science, Griffith University, Gold Coast, Queensland 4217.
Lea
R
R
Sullivan
A A
AA
Curtain
R
R
MacMillian
J
J
Griffiths
L
L
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001315:Australia; D003545:Cysteine / Q000235:genetics*; D015161:Dementia, Multi-Infarct / Q000235:genetics*; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010649:Phenylalanine / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface / Q000235:genetics; D051880:Receptors, Notch
C499374:NOTCH3 protein, human; D011518:Proto-Oncogene Proteins; D000071656:Receptor, Notch3; D011956:Receptors, Cell Surface; D051880:Receptors, Notch; D010649:Phenylalanine; D003545:Cysteine