Associated Papers
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
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2004
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S et al.
Kidney International, 2003
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