Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
about
The genetics and pathology of mitochondrial disease.Mitochondrial diseases: advances and issues.Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link?MtDNA-maintenance defects: syndromes and genes.De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.Cdkal1, a type 2 diabetes susceptibility gene, regulates mitochondrial function in adipose tissue.Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism.De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.Cardiolipin dynamics and binding to conserved residues in the mitochondrial ADP/ATP carrier.The functional genomics laboratory: functional validation of genetic variants.Inborn errors of metabolism and the human interactome: a systems medicine approach.Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Expanding the clinical phenotype of IARS2-related mitochondrial disease
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P2860
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
description
2016 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
im Oktober 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2016/10/06)
@nl
наукова стаття, опублікована в жовтні 2016
@uk
مقالة علمية (نشرت في 6-10-2016)
@ar
name
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number
@ast
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number
@en
type
label
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number
@ast
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number
@en
prefLabel
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number
@ast
Recurrent De Novo Dominant Mut ...... Mitochondrial DNA Copy Number
@en
P2093
P2860
P50
P921
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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
P2860
P304
P356
10.1016/J.AJHG.2016.08.014
P407
P50
P577
2016-09-29T00:00:00Z