Condition: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)


rs1491384052 in PEX6 gene and PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) PMID 8940266 1996 Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

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

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 26593283 2016 PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.

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

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 19142205 2009 Rational diagnostic strategy for Zellweger syndrome spectrum patients.

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

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

PMID 15858711 2005 Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

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

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

PMID 25079577 2014 Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

PMID 26387595 2015 Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

PMID 26943801 2016 The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

PMID 11004248 2000 Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.

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

PMID 26287655 2016 Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

PMID 10408779 1999 Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.

PMID 22894767 2012 A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.