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
Full text not available from this repository.
Item Type: |
Article
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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 |
Related URLs: |
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Dates: |
Date | Event |
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1 November 2003 | Published |
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Web of Science ID: |
WOS:000186493400015 |
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URI: |
https://openaccess.sgul.ac.uk/id/eprint/24 |
Publisher's version: |
https://doi.org/10.1086/379522 |
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