Associated Papers
Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.
Molinari E et al.
Bmc Nephrology, 2020
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Melchionda S et al.
Journal of Human Genetics, 2016
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