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Muscular dystrophies due to glycosylation defects

In the last few years, muscular dystrophies due to reduced glycosylation of alpha-dystroglycan (ADG) have emerged as a common group of conditions, now referred to as dystroglycanopathies. Mutations in six genes (POMT1, POMT2, POMGnT1, Fukutin, FKRP and LARGE) have so far been identified in patients...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurotherapeutics
Prif Awduron: Muntoni, Francesco, Torelli, Silvia, Brockington, Martin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer New York 2008
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4514705/
https://ncbi.nlm.nih.gov/pubmed/19019316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nurt.2008.08.005
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