Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

Item
http://www.wikidata.org/entity/Q34573975
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersBiomarkers, metabonomics, and drug development: can inborn errors of metabolism help in understanding drug toxicity?Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphismsPeripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress.Rational diagnostic strategy for Zellweger syndrome spectrum patientsChronic risperidone treatment preferentially increases rat erythrocyte and prefrontal cortex omega-3 fatty acid composition: evidence for augmented biosynthesis.Knockdown of Pex11β reveals its pivotal role in regulating peroxisomal genes, numbers, and ROS levels in Xenopus laevis A6 cells.TRIM37, a novel E3 ligase for PEX5-mediated peroxisomal matrix protein import.LRP1 regulates peroxisome biogenesis and cholesterol homeostasis in oligodendrocytes and is required for proper CNS myelin development and repair.Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.Deletion 2p15-16.1 syndrome: Case report and review
P2860

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

Item
http://www.wikidata.org/entity/Q34573975
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年學術文章
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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Identification of novel mutati ...... n Zellweger spectrum patients.
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P478
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