Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree.
| Data(s) |
2000
|
|---|---|
| Identificador | |
| Publicador |
John Wiley & Sons |
| Relação |
http://www.scopus.com/inward/record.url?eid=2-s2.0-0034321629&partnerID=40&md5=a884f65ea4d219fe4cc285c97c3f2b6d Grigg, R., Lea, R., Sullivan, A. A., Curtain , R., MacMillan, J., & Griffiths, Lyn R. (2000) Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree. Human Mutation, 16(5), pp. 449-450. |
| Direitos |
Copyright 2000 John Wiley & Sons |
| Fonte |
Institute of Health and Biomedical Innovation |
| Palavras-Chave | #cell surface receptor #cysteine #Notch receptor #NOTCH3 protein #human #oncoprotein #phenylalanine #adult #amino acid substitution #article #Australia #genetics #human #leukoencephalopathy #missense mutation #multiinfarct dementia #pedigree #Adult #Amino Acid Substitution #Australia #Cysteine #Dementia #Multi-Infarct #Humans #Leukoencephalopathy #Progressive Multifocal #Mutation #Missense #Pedigree #Phenylalanine #Proto-Oncogene Proteins #Receptors #Cell Surface #Receptors #Notch |
| Tipo |
Journal Article |
