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Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum

BACKGROUND: Hereditary spastic paraplegia defines a group of genetically heterogeneous diseases characterized by weakness and spasticity of the lower limbs owing to retrograde degeneration of corticospinal axons. One autosomal recessive form of the disease is caused by mutation in the SPG7 gene. Par...

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Détails bibliographiques
Auteurs principaux: Mancuso, Giuseppe, Barth, Esther, Crivello, Pietro, Rugarli, Elena I.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2012
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3341365/
https://ncbi.nlm.nih.gov/pubmed/22563492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0036337
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