A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
about
Congenital sensorineural deafness in dalmatian dogs associated with quantitative trait lociLack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathyToward a mtDNA locus-specific mutation database using the LOVD platformImproved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.Axon Transport and Neuropathy: Relevant Perspectives on the Etiopathogenesis of Familial Dysautonomia.Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.Glutathione-conjugating and membrane-remodeling activity of GDAP1 relies on amphipathic C-terminal domainThe Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.The Peroxisome-Mitochondria Connection: How and Why?Metabolic Stress and Disorders Related to Alterations in Mitochondrial Fission or Fusion.
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A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
A locus-specific database for ...... Tooth diseases type 4A and 2K.
@ast
A locus-specific database for ...... Tooth diseases type 4A and 2K.
@en
type
label
A locus-specific database for ...... Tooth diseases type 4A and 2K.
@ast
A locus-specific database for ...... Tooth diseases type 4A and 2K.
@en
prefLabel
A locus-specific database for ...... Tooth diseases type 4A and 2K.
@ast
A locus-specific database for ...... Tooth diseases type 4A and 2K.
@en
P2860
P50
P356
P1476
A locus-specific database for ...... -Tooth diseases type 4A and 2K
@en
P2093
Christophe Verny
Julien Cassereau
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P2888
P356
10.1186/1750-1172-6-87
P577
2011-12-26T00:00:00Z
P5875
P6179
1041226068