Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans
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The promiscuous enzyme medium-chain 3-keto-acyl-CoA thiolase triggers a vicious cycle in fatty-acid beta-oxidation.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
P2860
Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Mutation of the mitochondrial ...... tochondrial myopathy in humans
@en
type
label
Mutation of the mitochondrial ...... tochondrial myopathy in humans
@en
prefLabel
Mutation of the mitochondrial ...... tochondrial myopathy in humans
@en
P2093
P2860
P1433
P1476
Mutation of the mitochondrial ...... tochondrial myopathy in humans
@en
P2093
Amal Kentab
Brady Summers
Haifa Alsedairy
Hanan E Shamseldin
Hisham Alkhalidi
Laura L Smith
Vandana A Gupta
Yong Xiong
P2860
P2888
P356
10.1007/S00439-015-1608-8
P577
2015-11-05T00:00:00Z