Article
Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?
BMC medical genetics - 24 Sept 2009
Li Gui-Sen, Nie Guang-Jun, Zhang Hong, LV Ji-Cheng, Shen Yan, Wang Hai-Yan
Abstract excerpt
BACKGROUND: The deficiency of beta1,3 galactose in hinge region of IgA1 molecule played a pivotal role in pathogenesis of IgA nephropathy (IgAN). Cosmc, encoded by C1GALT1C1 gene, was indispensable to beta1,3 galactosylation of IgA1. We designed a serial study to investigate the relationship between the mutations of C1GALT1C1 gene and the genetic susceptibility to IgAN. METHODS: Nine hundred and thirty-eight...
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