Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Item
http://www.wikidata.org/entity/Q30834586
Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterationsDiagnosis and management of Silver-Russell syndrome: first international consensus statement.Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
P2860

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Item
http://www.wikidata.org/entity/Q30834586
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին 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
Mitochondrial encephalomyopath ...... t mutation and 13q14 deletion.
@ast
Mitochondrial encephalomyopath ...... t mutation and 13q14 deletion.
@en
type
label
Mitochondrial encephalomyopath ...... t mutation and 13q14 deletion.
@ast
Mitochondrial encephalomyopath ...... t mutation and 13q14 deletion.
@en
prefLabel
Mitochondrial encephalomyopath ...... t mutation and 13q14 deletion.
@ast
Mitochondrial encephalomyopath ...... t mutation and 13q14 deletion.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921
P932
P356
P1433
P1476
Mitochondrial encephalomyopath ...... nt mutation and 13q14 deletion
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921
P932