POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
about
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism.Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.
P2860
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
description
2010 nî lūn-bûn
@nan
2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@ast
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@en
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@nl
type
label
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@ast
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@en
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@nl
prefLabel
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@ast
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@en
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@nl
P2093
P2860
P356
P1433
P1476
POLG1 p.R722H mutation associa ...... and a neurological phenotype.
@en
P2093
Hannu Tuominen
Heikki Rantala
Ilmo Hassinen
Johanna Uusimaa
Kari Majamaa
Leila Pajunen
Mikko Kärppä
Saara Finnilä
Tuomas Komulainen
P2860
P2888
P356
10.1186/1471-2377-10-29
P577
2010-05-03T00:00:00Z
P5875
P6179
1004848187