about
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions.Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.The mitochondrial DNA polymerase gamma degrades linear DNA fragments precluding the formation of deletions.Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cellsSubcellular origin of mitochondrial DNA deletions in human skeletal muscle
P2860
Q47122284-A9633CDC-2390-44DB-BCC3-F21EDEDFC93BQ47228285-DDCB94F5-9215-455E-939A-A5BF8DFB8B79Q47434262-EDBC98D3-F06E-40DF-882B-A7CD77707937Q47922216-0422329B-799A-4AAB-B84C-DD16FC5A3C32Q51760035-294A1C66-51A0-4328-95F3-75AA51D305BCQ55513484-B023EC4A-F841-4F9B-B3B8-8C3C46F8ABB7Q56349520-CE1EFFC1-40F9-4493-A1F9-FFACFD60C199Q57416781-718E9A2D-1DB9-4410-A0CF-2FA1AC6CE51A
P2860
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
MtDNA-maintenance defects: syndromes and genes.
@en
type
label
MtDNA-maintenance defects: syndromes and genes.
@en
prefLabel
MtDNA-maintenance defects: syndromes and genes.
@en
P2860
P921
P1476
MtDNA-maintenance defects: syndromes and genes.
@en
P2093
Carlo Viscomi
P2860
P2888
P304
P356
10.1007/S10545-017-0027-5
P5008
P577
2017-03-21T00:00:00Z
2017-07-01T00:00:00Z
P6179
1084025279