Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11

Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supportin...

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Detalles Bibliográficos
Autores principales: Yu, Allen Chi-Shing, Chan, Anne Yin-Yan, Au, Wing Chi, Shen, Yun, Chan, Ting Fung, Chan, Ho-Yin Edwin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111012/
https://www.ncbi.nlm.nih.gov/pubmed/27900367
http://dx.doi.org/10.1101/mcs.a001248

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111012/
https://www.ncbi.nlm.nih.gov/pubmed/27900367
http://dx.doi.org/10.1101/mcs.a001248

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