通过大规模平行测序鉴定的新型 MUC1 变体解释了大型荷兰家族中的间质性肾病。
关键词: ADTKD-MUC1 MUC1 autosomal dominant tubulointerstitial kidney disease chronic kidney disease massively parallel sequencing
Mesh : Humans High-Throughput Nucleotide Sequencing Kidney Diseases / genetics Mucin-1 / genetics Mutation Nephritis, Interstitial / diagnosis genetics Pedigree
来 源: DOI:10.1016/j.kint.2023.02.021