Article
Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.
Cytogenetic and genome research - 1 Jan 2018
Li Ang, Gao Er-Zhi, Cui Ying-Xia, Liu Jian-Hong, Lv Xing, Wei Xiu-Xiu, Xia Xin-Yi, Gao Chun-Lin, Liu Feng-Xia, Xia Zheng-Kun, Asan, Liu Zhi-Hong, Li Xiao-Jun
Abstract excerpt
Thin basement membrane nephropathy (TBMN), autosomal dominant Alport syndrome (ADAS), and focal segmental glomerulosclerosis (FSGS) are kidney diseases that differ in clinical diagnosis, treatment, and prognosis. Nevertheless, they may result from the same causative genes. Here, we report 3 COL4A4 heterozygous mutations (p.Gly208Arg, p.Ser513Glufs*2, and p.Met1617Cysfs*39) that lead to 3 different collagen type...
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