Associated Papers
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
Lapunzina-Soler P et al.
Genes, 2026
Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene.
Zhang Y et al.
Human Genomics, 2024
39521997 (PubMed )
Supplement: 40246_2024_675_MOESM1_ESM.xlsx › Table_S1.1
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Obeidova L et al.
Bmc Medical Genetics, 2015
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Kidney International, 2005
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