Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis disorders (PEX16) and GM1 gangliosidosis (G...

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Vydáno v:Neurogenetics
Hlavní autoři: Kumar, Kishore R, Wali, G.M., Kamate, Mahesh, Wali, Gautam, Minoche, André E, Puttick, Clare, Pinese, Mark, Gayevskiy, Velimir, Dinger, Marcel E, Roscioli, Tony, Sue, Carolyn M., Cowley, Mark J
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Berlin Heidelberg 2016
Témata:
Short Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5061846/
https://ncbi.nlm.nih.gov/pubmed/27679996
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-016-0495-z
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