Associated Papers
Novel splice site and nonsense variants in PKHD1 cause autosomal recessive polycystic kidney disease in a Chinese Zhuang ethnic family.
Qian C et al.
Medicine, 2024
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
Nozu K et al.
Human Genetics, 2009
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
Bergmann C et al.
Journal of Human Genetics, 2006
Select a paper to view details