Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
about
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.Cardiomyopathy-associated mutation in the ADP/ATP carrier reveals translation-dependent regulation of cytochrome c oxidase activity.
P2860
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number.
@en
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number.
@nl
type
label
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number.
@en
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number.
@nl
prefLabel
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number.
@en
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number.
@nl
P2093
P50
P1476
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number
@en
P2093
Alon Haham
Anu Suomalainen
Aviva Fattal-Valevski
Charlotte L Alston
Charu Deshpande
Ileana Ferrero
Inês A Barbosa
Karit Reinson
Kyle Thompson
Langping He
P356
10.1016/J.AJHG.2016.11.001
P407
P50
P577
2016-12-01T00:00:00Z