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  1. Article

    Open Access

    SMRT sequencing revealed to be an effective method for ADTKD-MUC1 diagnosis through follow-up analysis of a Chinese family

    We reported a large Chinese family diagnosed with autosomal dominant tubulointerstitial kidney disease caused by MUC1 mutation (ADTKD-MUC1). Cytosine duplication within a string of 7 cytosines in the variable-num...

    Guo-qin Wang, Hong-liang Rui, Hong-rui Dong, Li-jun Sun, Min Yang… in Scientific Reports (2020)

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