Article
The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.
Cytogenetic and genome research - 1 Jan 2018
Li Ang, Cui Ying-Xia, Lv Xing, Liu Jian-Hong, Gao Er-Zhi, Wei Xiu-Xiu, Xia Xin-Yi, Gao Chun-Lin, Liu Feng-Xia, Xia Zheng-Kun, Asan, Liu Zhi-Hong, Li Xiao-Jun
Abstract excerpt
Mutations in the COL4A5 gene result in X-linked Alport syndrome, homozygous or compound heterozygous mutations in COL4A3 or COL4A4 are responsible for autosomal recessive Alport syndrome, and heterozygous mutations in COL4A3 or COL4A4 cause autosomal dominant Alport syndrome or benign familial hematuria. Recently, the existence of a digenic inheritance in Alport syndrome has been demonstrated. We here report...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.