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B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations

Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of α-dystroglycan. They include disease entities such a Walker–Warburg syndrome, muscle–eye–brain disease and various other clinical phenotypes. Different ge...

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Hlavní autoři: Hedberg, Carola, Oldfors, Anders, Darin, Niklas
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992579/
https://ncbi.nlm.nih.gov/pubmed/24084573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.223
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