Τρίτη 8 Αυγούστου 2017

Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report

The peroxisome biogenesis disorders, which are caused by mutations in any of 13 different PEX genes, include the Zellweger spectrum disorders. Severe defects in one of these PEX genes result in the absence of fun...

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