Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
about
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic featuresMutations in TTC19: expanding the molecular, clinical and biochemical phenotype.Nuclear gene mutations as the cause of mitochondrial complex III deficiencyMetabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.Phenotypic variation ofTTC19-deficient mitochondrial complex III deficiency: A case report and literature reviewHuman diseases associated with defects in assembly of OXPHOS complexes
P2860
Q30887594-236BA08A-8E3B-4EA3-B2C0-BA96C92F92E2Q30910075-CA000983-B9C8-44FC-9C25-733596DA3D30Q34510948-A67155C6-0C5D-406B-8D3F-542A79D74A1AQ34591212-267F862B-6A22-4DA1-A81E-00C3993C2208Q35577120-76E1EBB8-ABB8-47CF-8FD6-9323950AED4EQ38443565-43F158DB-BE97-4545-9B39-931B877F650EQ41840468-B8122A0D-B510-477E-B7AB-1EDFAFA73E83Q56687740-6B27B0BB-54D6-47B9-9004-F12632F96F2BQ57175222-4DAEC5F2-7961-4368-8440-81C912B25ACB
P2860
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունվարին 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
Exome sequencing reveals a nov ...... spinocerebellar ataxia patient
@ast
Exome sequencing reveals a nov ...... spinocerebellar ataxia patient
@en
type
label
Exome sequencing reveals a nov ...... spinocerebellar ataxia patient
@ast
Exome sequencing reveals a nov ...... spinocerebellar ataxia patient
@en
prefLabel
Exome sequencing reveals a nov ...... spinocerebellar ataxia patient
@ast
Exome sequencing reveals a nov ...... spinocerebellar ataxia patient
@en
P2860
P50
P356
P1433
P1476
Exome sequencing reveals a nov ...... spinocerebellar ataxia patient
@en
P2093
Shizuo Ohnishi
P2860
P2888
P356
10.1186/1471-2377-14-5
P577
2014-01-07T00:00:00Z
P5875
P6179
1023141628