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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Detalles Bibliográficos
Autores principales: Oh, Ja-Young, Do, Hyun Jung, Lee, Seungok, Jang, Ja-Hyun, Cho, Eun-Hae, Jang, Dae-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5256329/
https://www.ncbi.nlm.nih.gov/pubmed/28119845
http://dx.doi.org/10.5535/arm.2016.40.6.1129

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