Mutations in HNF1A result in marked alterations of plasma glycan profile.
A recent genome-wide association study identified hepatocyte nuclear factor 1-α (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MODY) would display altered fucosylation of N-linked glycans on plasma pr...
Үндсэн зохиолчид: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Формат: | Journal article |
Хэл сонгох: | English |
Хэвлэсэн: |
2013
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