Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease

Congenital muscular dystrophies have a broad spectrum of genotypes and phenotypes and there is a need for a better biochemical understanding of this group of diseases in order to aid diagnosis and treatment. Several mutations resulting in these diseases cause reduced O-mannosyl glycosylation of glyc...

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Detaylı Bibliyografya
Asıl Yazarlar: Voglmeir, Josef, Kaloo, Sara, Laurent, Nicolas, Meloni, Marco M., Bohlmann, Lisa, Wilson, Iain B. H., Flitsch, Sabine L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Portland Press Ltd. 2011
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3133881/
https://ncbi.nlm.nih.gov/pubmed/21361872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20101059
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