Article
Mucin variable number tandem repeat polymorphisms and severity of cystic fibrosis lung disease: significant association with MUC5AC.
PloS one - 1 Jan 2011
Guo Xueliang, Pace Rhonda G, Stonebraker Jaclyn R, Commander Clayton W, Dang Anthony T, Drumm Mitchell L, Harris Ann, Zou Fei, Swallow Dallas M, Wright Fred A, O'Neal Wanda K, Knowles Michael R
Abstract excerpt
Variability in cystic fibrosis (CF) lung disease is partially due to non-CFTR genetic modifiers. Mucin genes are very polymorphic, and mucins play a key role in the pathogenesis of CF lung disease; therefore, mucin genes are strong candidates as genetic modifiers. DNA from CF patients recruited for extremes of lung phenotype was analyzed by Southern blot or PCR to define variable number tandem repeat (VNTR)...
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