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 °C
- 30 May 2007
- journal article
- case report
- Published by Springer Nature in Journal of Human Genetics
- Vol. 52 (7) , 599-606
- https://doi.org/10.1007/s10038-007-0157-y
Abstract
Journal of Human Genetics, official journal of the Japan Society of Human Genetics, publishes original articles and reviews on all aspects of human genetics, including medical genetics and genomicsKeywords
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