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A novelPEX12mutation 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

✍ Scribed by Avraham Zeharia; Merel S. Ebberink; Ronald J. A. Wanders; Hans R. Waterham; Alisa Gutman; Andreea Nissenkorn; Stanley H. Korman


Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
212 KB
Volume
52
Category
Article
ISSN
1435-232X

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