A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease
about
Mitochondrial cytochrome c oxidase deficiencyTissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease.Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.The genetics and pathology of mitochondrial disease.Assessment of Protein Binding of 5-Hydroxythalidomide Bioactivated in Humanized Mice with Human P450 3A-Chromosome or Hepatocytes by Two-Dimensional Electrophoresis/Accelerator Mass Spectrometry.GADD45β, an anti-tumor gene, inhibits avian leukosis virus subgroup J replication in chickens.Deep sequencing reveals the mitochondrial DNA variation landscapes of breast-to-brain metastasis blood samples.Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Alternative Splicing in the Human PMP22 Gene: Implications in CMT1A Neuropathy.Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.Multiscale network modeling of oligodendrocytes reveals molecular components of myelin dysregulation in Alzheimer's disease.Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
P2860
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P2860
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease
description
2014 nî lūn-bûn
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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
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name
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@ast
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@en
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
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type
label
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@ast
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@en
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@nl
prefLabel
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@ast
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@en
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@nl
P2093
P2860
P1476
A mutation of COX6A1 causes a ...... of Charcot-Marie-Tooth disease
@en
P2093
Atsushi Tanaka
Chikahiko Numakura
Chizuru Ito
Daijiro Yanagisawa
Gen Tamiya
Hiroshi Maegawa
Kiyoshi Hayasaka
Kiyotaka Toshimori
Makiko Hayashi
P2860
P304
P356
10.1016/J.AJHG.2014.07.013
P407
P577
2014-09-04T00:00:00Z