Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene
about
Transfer RNA and human diseaseDe novo mtDNA point mutations are common and have a low recurrence risk.Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.The mitochondrial proteome and human disease.Mitochondrial DNA and disease.Human mitochondrial transfer RNAs: role of pathogenic mutation in disease.Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.Mitochondrial epilepsy in pediatric and adult patients.
P2860
Q33703946-76E9F288-3EF7-48E1-BC3F-30965FF3E2A1Q33886230-AA6966D8-415E-4C5A-A614-AACC6E087111Q34346045-1921C874-9420-49F7-9224-2951647D6B5BQ35427460-28283ED9-4E82-4FCE-AC2F-6352BBC37B37Q36194900-39676DFF-BB22-4DCE-A857-E33E12E2B712Q36999837-7D13E660-4372-4488-B8EC-212EB29391AEQ37808651-E0A05774-D165-4A96-9191-63F9F682C3EFQ38088309-EA77F62B-FA9A-4EC4-B7B8-8E94DB72FEC6
P2860
Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene
description
2004 nî lūn-bûn
@nan
2004 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@ast
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@en
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@nl
type
label
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@ast
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@en
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@nl
prefLabel
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@ast
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@en
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@nl
P2093
P1433
P1476
Catastrophic presentation of m ...... mutation in the tRNA(His) gene
@en
P2093
A M Thomas
D M Turnbull
E L Blakely
M T McDonnell
R K H Petty
R W Taylor
P304
P356
10.1212/01.WNL.0000120667.77372.46
P407
P577
2004-04-01T00:00:00Z