Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
about
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parentsAdrenoleukodystrophy and related disorders.Reducing PEX13 expression ameliorates physiological defects of late-acting peroxin mutants.Rational diagnostic strategy for Zellweger syndrome spectrum patientsStructures of the double-ring AAA ATPase Pex1-Pex6 involved in peroxisome biogenesis.Disparate peroxisome-related defects in Arabidopsis pex6 and pex26 mutants link peroxisomal retrotranslocation and oil body utilization.Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.
P2860
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P2860
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունվարին 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
Genomic structure and identifi ...... roxisome biogenesis disorders.
@ast
Genomic structure and identifi ...... roxisome biogenesis disorders.
@en
type
label
Genomic structure and identifi ...... roxisome biogenesis disorders.
@ast
Genomic structure and identifi ...... roxisome biogenesis disorders.
@en
prefLabel
Genomic structure and identifi ...... roxisome biogenesis disorders.
@ast
Genomic structure and identifi ...... roxisome biogenesis disorders.
@en
P2093
P2860
P1433
P1476
Genomic structure and identifi ...... roxisome biogenesis disorders.
@en
P2093
P2860
P304
P356
10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T
P577
1999-01-01T00:00:00Z