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Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

Simpson, MA; Cross, H; Proukakis, C; Pryde, A; Hershberger, R; Chatonnet, A; Patton, MA; Crosby, AH (2003) Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. AMERICAN JOURNAL OF HUMAN GENETICS, 73 (5). 1147 - 1156 (10). ISSN 0002-9297 https://doi.org/10.1086/379522
SGUL Authors: Crosby, Andrew Harry Patton, Michael Alexander

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Item Type: Article
Additional Information: PubMed ID: 14564668
Keywords: Adaptor Proteins, Signal Transducing, Adult, Amino Acid Sequence, Base Sequence, Brain, Carrier Proteins, Chromosomes, Human, Pair 15, DNA Mutational Analysis, Dementia, Ethnic Groups, Female, Genes, Recessive, Haplotypes, Humans, Lod Score, Magnetic Resonance Imaging, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Pedigree, Protein Conformation, Protestantism, Spastic Paraplegia, Hereditary, Syndrome, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, SENSORY NEUROPATHY, PARAPARESIS, MOTOR, PROTEINS, DISEASE, FAMILY, LOM
SGUL Research Institute / Research Centre: Academic Structure > Institute of Medical & Biomedical Education (IMBE)
Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Clinical Education (INMECE )
Journal or Publication Title: AMERICAN JOURNAL OF HUMAN GENETICS
ISSN: 0002-9297
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Dates:
DateEvent
1 November 2003Published
Web of Science ID: WOS:000186493400015
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URI: http://openaccess.sgul.ac.uk/id/eprint/24
Publisher's version: https://doi.org/10.1086/379522

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