Article
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.
Journal of human genetics - 1 Jan 2007
Zeharia Avraham, Ebberink Merel S, Wanders Ronald J A, Waterham Hans R, Gutman Alisa, Nissenkorn Andreea, Korman Stanley H
Abstract excerpt
Mutations in 12 different PEX genes can cause a generalized peroxisomal biogenesis disorder with clinical phenotypes ranging from Zellweger syndrome to infantile Refsum disease. To identify the specific PEX gene to be sequenced, complementation analysis is first performed in fibroblasts using cat...
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