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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Detalles Bibliográficos
Autores principales: Li, Miaoxin, Ho, Philip Wing-Lok, Pang, Shirley Yin-Yu, Tse, Zero Ho-Man, Kung, Michelle Hiu-Wai, Sham, Pak-Chung, Ho, Shu-Leong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132067/
https://www.ncbi.nlm.nih.gov/pubmed/25119969
http://dx.doi.org/10.1371/journal.pone.0104790

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132067/
https://www.ncbi.nlm.nih.gov/pubmed/25119969
http://dx.doi.org/10.1371/journal.pone.0104790

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