A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C
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| Description | scientific article |
| Author/s |
author: Merel S. Ebberink Ronald J A Wanders Hans R Waterham |
| Publication date | 2007 |
| Language | English |
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