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PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia

Familial spastic paraplegia (FSP) is a heterogeneous group of disorders characterized primarily by progressive lower limb spasticity and weakness. More than 50 disease loci have been described with different modes of inheritance. In this study, we identified a novel missense mutation (c.803G>A, p...

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Dettagli Bibliografici
Autori principali: Li, Miaoxin, Ho, Philip Wing-Lok, Pang, Shirley Yin-Yu, Tse, Zero Ho-Man, Kung, Michelle Hiu-Wai, Sham, Pak-Chung, Ho, Shu-Leong
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4132067/
https://ncbi.nlm.nih.gov/pubmed/25119969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104790
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