Condition: Peroxisome Biogenesis Disorder, Complementation Group 7


rs267608183 in PEX10 gene and Peroxisome Biogenesis Disorder, Complementation Group 7 PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 9683594 1998 Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

PMID 17041890 2006 Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

PMID 9700193 1998 Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.

PMID 12794690 2003 Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.

PMID 19142205 2009 Rational diagnostic strategy for Zellweger syndrome spectrum patients.