Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Fucosyltransferase 8 (FUT8) encodes a Golgi-localized α1,6 fucosyltransferase that is essential for transferring the monosaccharide fucose into N-linked glycoproteins, a process known as “core fucosylation.” Here we describe three unrelated individuals, who presented with intrauterine growth retarda...

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Vydáno v:Am J Hum Genet
Hlavní autoři: Ng, Bobby G., Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N., Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B., AlAsmari, Ali, Suchy, Sharon F., Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A., Kronn, David F., Freeze, Hudson H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5777984/
https://ncbi.nlm.nih.gov/pubmed/29304374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.12.009
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