Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

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http://www.wikidata.org/entity/Q54476409
Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromesBacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseasesNeutral mitochondrial heteroplasmy and the influence of aging.Biochemical analysis of human POLG2 variants associated with mitochondrial disease.Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesDiagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.An animal model to study human muscular diseases involving mitochondrial oxidative phosphorylation.Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneTransition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.Erratum
P2860

Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.

Item
http://www.wikidata.org/entity/Q54476409
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Application of dual-genome oli ...... etion and depletion syndromes.
@en
Application of dual-genome oli ...... etion and depletion syndromes.
@nl
type
label
Application of dual-genome oli ...... etion and depletion syndromes.
@en
Application of dual-genome oli ...... etion and depletion syndromes.
@nl
prefLabel
Application of dual-genome oli ...... etion and depletion syndromes.
@en
Application of dual-genome oli ...... etion and depletion syndromes.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P6179
P698
P921
P356
P1433
P1476
Application of dual-genome oli ...... etion and depletion syndromes.
@en
P2093
P2860
P2888
P304
P31
P356
10.1097/GIM.0B013E3181ABD83C
P407
P433
P478
P50
P577
P6179
P698
P921