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Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction
Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3). Mutations in FKRP are also associated with Congenital Muscular Dystrophy (MDC1C), Walker-Warburg S...
Autores principales: | Alhamidi, Maisoon, Kjeldsen Buvang, Elisabeth, Fagerheim, Toril, Brox, Vigdis, Lindal, Sigurd, Van Ghelue, Marijke, Nilssen, Øivind |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160285/ https://www.ncbi.nlm.nih.gov/pubmed/21886772 http://dx.doi.org/10.1371/journal.pone.0022968 |
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