Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
about
AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failureAdult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneCanine MPV17 truncation without clinical manifestations.transparent, a gene affecting stripe formation in Zebrafish, encodes the mitochondrial protein Mpv17 that is required for iridophore survivalMPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.Mitochondrial Depletion Syndromes in Children and Adults
P2860
Q24622009-506D2B6C-2A18-47CB-BB2C-FB53812C3401Q33947292-A58B1612-7DAA-4CAA-9AE8-A554EAEB6770Q34347182-55C04180-799C-42B8-9F88-552CE31560F0Q36175351-E6FF23BB-E4E1-445E-9BD8-4E31AF8F8A5AQ37011402-B5D324D2-8AED-43CF-BA69-356F0CACD958Q47250447-CBA9C128-8B0C-49AA-928A-B20947C858B0Q48000166-D4F9196B-C3D2-4EB3-9601-2F2AE11D163DQ56567987-90210197-8176-420F-86F1-700D48D4A829
P2860
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
@en
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
@nl
type
label
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
@en
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
@nl
prefLabel
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
@en
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
@nl
P2860
P356
P1476
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene
@en
P2093
Abdulaziz AlSaman
Hoda Tomoum
P2860
P304
P356
10.4103/1319-3767.98439
P577
2012-07-01T00:00:00Z