Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report

Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provide...

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Bibliographische Detailangaben
Veröffentlicht in:Ann Rehabil Med
Hauptverfasser: Oh, Ja-Young, Do, Hyun Jung, Lee, Seungok, Jang, Ja-Hyun, Cho, Eun-Hae, Jang, Dae-Hyun
Format: Artigo
Sprache:Inglês
Veröffentlicht: Korean Academy of Rehabilitation Medicine 2016
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5256329/
https://ncbi.nlm.nih.gov/pubmed/28119845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2016.40.6.1129
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