Identification of a common PEX1 mutation in Zellweger syndrome

Identification of a common PEX1 mutation in Zellweger syndrome

Item
http://www.wikidata.org/entity/Q28142124
PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein importPEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.Zellweger spectrum disorders: clinical overview and management approachThe Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersRecovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.Disease specific therapies in leukodystrophies and leukoencephalopathies.Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis.Emerging treatments for pediatric leukodystrophies.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.Peroxisome biogenesis disorders.
P2860

Identification of a common PEX1 mutation in Zellweger syndrome

Item
http://www.wikidata.org/entity/Q28142124
description
1999 nî lūn-bûn
@nan
1999 թուականին հրատարակուած գիտական յօդուած
@hyw
1999 թվականին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Identification of a common PEX1 mutation in Zellweger syndrome
@ast
Identification of a common PEX1 mutation in Zellweger syndrome
@en
Identification of a common PEX1 mutation in Zellweger syndrome
@nl
type
label
Identification of a common PEX1 mutation in Zellweger syndrome
@ast
Identification of a common PEX1 mutation in Zellweger syndrome
@en
Identification of a common PEX1 mutation in Zellweger syndrome
@nl
prefLabel
Identification of a common PEX1 mutation in Zellweger syndrome
@ast
Identification of a common PEX1 mutation in Zellweger syndrome
@en
Identification of a common PEX1 mutation in Zellweger syndrome
@nl
P1433
P1476
P2093
P304
P31
P3181
P356
P407
P433
P478
P50
P577
P698
P3181
P356
P1433
P1476
Identification of a common PEX1 mutation in Zellweger syndrome
@en
P2093
P304
P31
P3181
P356
10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.3.CO;2-A
P407
P433
P478
P50
P577
P698