Polyzystische Nieren- und Lebererkrankung Gen 1

de Fallois J et al. (2021) Challenging Disease Ontology by Instances of Atypical and Genetics.

Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

Onuchic LF et al. (2002) PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.

Sharp AM et al. (2005) Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

Losekoot M et al. (2005) Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

Orphanet article

NCBI article

OMIM.ORG article

Wikipedia Artikel