Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
about
High-throughput sequencing in mitochondrial DNA researchThe COQ2 genotype predicts the severity of coenzyme Q10 deficiencyResolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches.Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryClinical presentations of coenzyme q10 deficiency syndromeDe novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.Analysis of COQ2 gene in multiple system atrophy.Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS CapacitySequence capture by hybridization to explore modern and ancient genomic diversity in model and nonmodel organisms.A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndromeWhole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.Molecular diagnosis of coenzyme Q10 deficiency.Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.Genetics of coenzyme q10 deficiency.A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.Practicality of identifying mitochondria variants from exome and RNAseq data.Mitochondrial Diseases as Model of Neurodegeneration.
P2860
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P2860
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
description
2013 nî lūn-bûn
@nan
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
2013年论文
@zh
2013年论文
@zh-cn
name
Diagnosis of mitochondrial dis ...... xome and mitochondrial genome.
@ast
Diagnosis of mitochondrial dis ...... xome and mitochondrial genome.
@en
type
label
Diagnosis of mitochondrial dis ...... xome and mitochondrial genome.
@ast
Diagnosis of mitochondrial dis ...... xome and mitochondrial genome.
@en
prefLabel
Diagnosis of mitochondrial dis ...... xome and mitochondrial genome.
@ast
Diagnosis of mitochondrial dis ...... xome and mitochondrial genome.
@en
P2093
P2860
P1433
P1476
Diagnosis of mitochondrial dis ...... xome and mitochondrial genome.
@en
P2093
Andrea M Atherton
Carol J Saunders
Darrell L Dinwiddie
Emily G Farrow
Laurie D Smith
Meghan E Strenk
Neil A Miller
Sarah E Soden
P2860
P304
P356
10.1016/J.YGENO.2013.04.013
P577
2013-04-28T00:00:00Z