Association of fucosyltransferase 8 (FUT8) polymorphism Thr267Lys with pulmonary emphysema.

doi:10.1038/jhg.2011.118

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Article

Association of fucosyltransferase 8 (FUT8) polymorphism Thr267Lys with pulmonary emphysema.

Journal of human genetics - 1 Dec 2011

Yamada Miki, Ishii Takeo, Ikeda Shinobu, Naka-Mieno Makiko, Tanaka Noriko, Arai Tomio, Kumasaka Toshio, Gemma Akihiko, Kida Kozui, Muramatsu Masaaki, Sawabe Motoji

Abstract excerpt

The fucosyltransferase 8 gene (FUT8) encodes an enzyme that transfers fucose to the innermost N-acetylglucosamine unit of N-glycan chains. Recent study showed that fut8-deficient mice develop pathological and physiological phenotypes resembling pulmonary emphysema (PE). The role of FUT8 in human PE is not known. A non-synonymous single-nucleotide polymorphism at the amino-acid position of 267 in FUT8 (rs35949016;...

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PMID: 22011814
DOI: 10.1038/jhg.2011.118

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FUT8

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