Article
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
American journal of human genetics - 1 Aug 2003
Matsumoto Naomi, Tamura Shigehiko, Furuki Satomi, Miyata Non, Moser Ann, Shimozawa Nobuyuki, Moser Hugo W, Suzuki Yasuyuki, Kondo Naomi, Fujiki Yukio
Abstract excerpt
The human disorders of peroxisome biogenesis (PBDs) are subdivided into 12 complementation groups (CGs). CG8 is one of the more common of these and is associated with varying phenotypes, ranging from the most severe, Zellweger syndrome (ZS), to the milder neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). PEX26, encoding the 305-amino-acid membrane peroxin, has been shown to be deficient in...
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