Release time:2020-01-20
Journal:Genet Med
Co-author:Lin G, Du J*, Lu G, Chen Y, Chen J, Lu C, Dai J, Zhang S, Cai S, Tan Y, Gong F, Hu L, Dai C
Document Type:J
Volume:21
Issue:2
Page Number:431-440
Translation or Not:no
Date of Publication:2019-02-01
Pre One:A rare deep intronic mutation of PKHD1 gene, c.8798-459 c>A, causes autosomal recessive polycystic kidney disease by pseudoexon activation
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