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Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

Hereditary Spastic Paraplegia (HSP) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations, such as cognitive impairment, seizures, ataxia or neuropathy. HSP occurs worldwide, with different populations having different frequenc...

詳細記述

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書誌詳細
出版年:Eur J Hum Genet
主要な著者: Lynch, David S, Koutsis, Georgios, Tucci, Arianna, Panas, Marios, Baklou, Markella, Breza, Marianthi, Karadima, Georgia, Houlden, Henry
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4688955/
https://ncbi.nlm.nih.gov/pubmed/26374131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.200
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