Загрузка...

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...

Полное описание

Сохранить в:
Библиографические подробности
Главные авторы: Mancuso, Giuseppe, Barth, Esther, Crivello, Pietro, Rugarli, Elena I.
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2012
Предметы:
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!