Condition: PEROXISOME BIOGENESIS DISORDER 4B


rs1010184002 in PEX6 gene and PEROXISOME BIOGENESIS DISORDER 4B PMID 26275793 2015 Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice.

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

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

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

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

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

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

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

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

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.