Condition: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)


rs1325771720 in PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) PMID 7565793 1995 Formation of the peroxisome lumen is abolished by loss of Pichia pastoris Pas7p, a zinc-binding integral membrane protein of the peroxisome.

PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

PMID 17702006 2007 Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

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

PMID 19142205 2009 Rational diagnostic strategy for Zellweger syndrome 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.

rs886041314 in PEX10;PLCH2 gene and PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) PMID 25179809 2014 High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

rs724160002 in PLCH2;PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

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