Condition: Peroxisome biogenesis disorders


rs61750428 in GATAD1;PEX1 gene and Peroxisome biogenesis disorders PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

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

rs149806989 in PEX1 gene and Peroxisome biogenesis disorders PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PMID 19877282 2010 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

PMID 12032265 2002 PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

PMID 21846392 2011 Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.

PMID 9398847 1997 Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.

PMID 10447258 1999 Identification of a common PEX1 mutation in Zellweger syndrome.

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

PMID 26643206 2016 Low bone mineral density is a common feature of Zellweger spectrum disorders.

rs61750435 in PEX10 gene and Peroxisome biogenesis disorders PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

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

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

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

rs144259891 in PEX12 gene and Peroxisome biogenesis disorders PMID 9792857 1998 Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

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

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

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

PMID 25287621 2015 Zellweger syndrome and secondary mitochondrial myopathy.

PMID 10527683 1999 Genotype-phenotype correlations in disorders of peroxisome biogenesis.

PMID 14630978 2004 Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

PMID 19877282 2010 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

PMID 29389947 2018 Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

rs61750426 in PEX1;GATAD1 gene and Peroxisome biogenesis disorders PMID 12032265 2002 PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

rs61752122 in PEX2 gene and Peroxisome biogenesis disorders PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 14630978 2004 Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

PMID 28089346 2017 Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry.

PMID 21465523 2011 Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

PMID 23430938 2012 Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.

PMID 9585609 1998 Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.

PMID 23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.

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

PMID 10528859 1999 Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.

rs1556586479 in PEX26 gene and Peroxisome biogenesis disorders PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 19877282 2010 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

PMID 16257970 2006 Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.

PMID 12851857 2003 Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

rs1491384052 in PEX6 gene and Peroxisome biogenesis disorders PMID 8940266 1996 Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

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

PMID 19877282 2010 Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

PMID 24016303 2013 Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.

PMID 27302843 2016 Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

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

PMID 11355018 2001 The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

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

PMID 26700162 2016 Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder.

PMID 8670792 1996 The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

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

PMID 29220678 2017 Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.