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Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method

BACKGROUND: The diagnosis of mitochondrial disorders is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next‐Generation Sequencing (NGS) technology offers a robust high‐throughput platform for nuclear and mitochondrial DNA (mtDNA) analyses. METHOD: We d...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Abicht, Angela, Scharf, Florentine, Kleinle, Stephanie, Schön, Ulrike, Holinski‐Feder, Elke, Horvath, Rita, Benet‐Pagès, Anna, Diebold, Isabel
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6305657/
https://ncbi.nlm.nih.gov/pubmed/30406974
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.500
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