Article
Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.
American journal of human genetics - 1 Jul 2001
Walter C, Gootjes J, Mooijer P A, Portsteffen H, Klein C, Waterham H R, Barth P G, Epplen J T, Kunau W H, Wanders R J, Dodt G
Abstract excerpt
Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD) are clinically overlapping syndromes, collectively called "peroxisome biogenesis disorders" (PBDs), with clinical features being most severe in ZS and least pronounced in IRD. Inheritance of these disorders is autosomal recessive. The peroxisome biogenesis disorders are genetically heterogeneous, having at least 12...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.