Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes

PURPOSE: Dystroglycanopathies are a heterogeneous group of recessive neuromuscular dystrophies that affect the muscle, brain and retina, and are caused by deficiencies in the O-glycosylation of α-dystroglycan. This post-translational modification is essential for the formation and maintenance of rib...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Vis
Päätekijät: Haro, Carmen, Uribe, Mary Luz, Quereda, Cristina, Cruces, Jesús, Martín-Nieto, José
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Molecular Vision 2018
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5783743/
https://ncbi.nlm.nih.gov/pubmed/29416295
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