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

Autosomal recessive polycystic kidney disease (ARPKD) is a severe form of polycystic kidney disease that presents primarily in infancy and childhood and that is characterized by enlarged kidneys and congenital hepatic fibrosis. We have identified PKHD1, the gene mutated in ARPKD. PKHD1 extends over...

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Hlavní autoři: Onuchic, Luiz F., Furu, Laszlo, Nagasawa, Yasuyuki, Hou, Xiaoying, Eggermann, Thomas, Ren, Zhiyong, Bergmann, Carsten, Senderek, Jan, Esquivel, Ernie, Zeltner, Raoul, Rudnik-Schöneborn, Sabine, Mrug, Michael, Sweeney, William, Avner, Ellis D., Zerres, Klaus, Guay-Woodford, Lisa M., Somlo, Stefan, Germino, Gregory G.
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2002
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC447605/
https://ncbi.nlm.nih.gov/pubmed/11898128
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