DOI:
10.1055/s-00000041
Neuropediatrics
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References
Zeharia A, Ebberink MS, Wanders RJA. et al.
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.
J Hum Genet 2007;
52 (07) 599-606
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