Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16...
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
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London: BMJ Publishing Group Ltd
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Language
English
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Publisher
London: BMJ Publishing Group Ltd
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BackgroundZellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, which encodes an integral peroxisomal membrane protein involved in peroxisomal membrane assembly. PEX16-defective patients have been reported to have a severe clinical presentation. Fibroblasts from these patients...
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Full title
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
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TN_cdi_hal_primary_oai_HAL_hal_00557382v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_00557382v1
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ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.074302
