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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-number tandem repeats (VNTR) region of the MUC1 gene was detected by long-read single-molec...

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Detalles Bibliográficos
Autores principales:	Wang, Guo-qin, Rui, Hong-liang, Dong, Hong-rui, Sun, Li-jun, Yang, Min, Wang, Yan-yan, Ye, Nan, Zhao, Zhi-rui, Liu, Xue-jiao, Xu, Xiao-yi, Chen, Yi-pu, Cheng, Hong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248079/ https://www.ncbi.nlm.nih.gov/pubmed/32451462 http://dx.doi.org/10.1038/s41598-020-65491-2

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