The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult ons...
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry
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Berlin/Heidelberg: Springer-Verlag
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Language
English
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Publisher
Berlin/Heidelberg: Springer-Verlag
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Contents
The c.1529C >T change in the SPG7 gene, encoding the mutant p.Ala510Val paraplegin protein, was first described as a polymorphism in 1998. This was based on its frequency of 3 % and 4 % in two separate surveys of controls in the United Kingdom (UK) population. Subsequently, it has been found to co-segregate with disease in a number of different pop...
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Full title
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry
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TN_cdi_proquest_miscellaneous_1352295088
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1352295088
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ISSN
0340-5354
E-ISSN
1432-1459
DOI
10.1007/s00415-012-6792-z
