Polycystic kidney and hepatic disease 1 gene
The PKHD1 gene that encodes fibrocystin is responsible for autosomal recessive polycystic kidney and liver disease.
Genetests:
Related Diseases:
References:
1. |
de Fallois J et al. (2021) Challenging Disease Ontology by Instances of Atypical and Genetics.
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2. |
Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
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3. |
Bergmann C et al. (2003) Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
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4. |
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.
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5. |
Sharp AM et al. (2005) Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
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6. |
Losekoot M et al. (2005) Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
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7. |
Orphanet article
Orphanet ID 117853
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8. |
NCBI article
NCBI 5314
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9. |
OMIM.ORG article
Omim 606702
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10. |
Wikipedia article
Wikipedia EN (Fibrocystin)
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Update: Aug. 14, 2020