Article
The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.
Molecular genetics and metabolism - 1 Apr 1999
Stephenson J B, Greene N D, Leung K Y, Munroe P B, Mole S E, Gardiner R M, Taschner P E, O'Regan M, Naismith K, Crow Y J, Mitchison H M
Abstract excerpt
Two distinct clinical subtypes of neuronal ceroid lipofuscinosis caused by mutations in the PPT gene, INCL and vJNCL/GROD, occur at a high frequency in the central region of Scotland. In this paper we summarize the clinical details and the molecular basis underlying the disease in the Scottish patients. Comparison of the combination of mutations in the different clinical types reveals a clear genotype-phenotype...
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