Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
about
Mitochondrial CardiomyopathiesDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesLipid-Loving ANTs: Molecular Simulations of Cardiolipin Interactions and the Organization of the Adenine Nucleotide Translocase in Model Mitochondrial Membranes.Spectrum of combined respiratory chain defects.Mutation in the AGK gene in two siblings with unusual Sengers syndrome.Comment on 'Sustained intraoperative bradycardia revealing Sengers syndrome'.Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction.Neuromuscular diseases with hypertrophic cardiomyopathyMutations in compromise cell survival in OxPhos-dependent metabolic conditions
P2860
Q26738378-AC2DF43E-FB5E-43CE-8027-7C4FE2E499CDQ28387241-1E94C168-9372-4C9F-8FC1-7C701C6FCFBEQ30829550-50B3A459-965C-4C6D-8557-2D3870CC32D6Q35825509-001B51F4-2985-4415-AF86-86FE25C283FBQ48128334-31122CA2-E378-4644-816B-297487934595Q50099649-EC28EDF8-7D53-406E-B700-2A5A23BFBECFQ54114879-5917F7AA-A89D-4B0F-B343-21173DA3EF1CQ58565564-41DCA818-293B-497B-81B8-E95E59BA95EEQ58760601-B729F8FE-5096-4D52-8265-AEC73910E263
P2860
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
description
2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@ast
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@en
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@nl
type
label
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@ast
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@en
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@nl
prefLabel
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@ast
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@en
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@nl
P2093
P2860
P50
P921
P3181
P1476
Sengers syndrome: six novel AG ...... tional spectrum of 29 patients
@en
P2093
Alireza Haghighi
Andrea Dworschak
Anne-Sophie Lebre
Hamidreza Haghighi-Kakhki
Hassan Mottaghi
Mahmood A Saeed
Mehnaz Atiq
Nasrollah Saleh-Gohari
Nathan Pulido
Rani A Bashir
P2860
P2888
P3181
P356
10.1186/S13023-014-0119-3
P407
P5008
P577
2014-08-20T00:00:00Z
P5875
P6179
1038776191