Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.

Item
http://www.wikidata.org/entity/Q34346045
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesPathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.De novo mtDNA point mutations are common and have a low recurrence risk.A national perspective on prenatal testing for mitochondrial diseaseMolecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs.Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics.Non-coding RNAs and disease: the classical ncRNAs make a comeback.Myopathology in the times of modern genetics.Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case reportDisclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
P2860

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.

Item
http://www.wikidata.org/entity/Q34346045
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@ast
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@en
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@nl
type
label
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@ast
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@en
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@nl
prefLabel
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@ast
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@en
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Pathogenic mitochondrial tRNA ...... ause of mitochondrial disease.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932