ATP8B1 is essential for maintaining normal hearing

ATP8B1 deficiency is caused by autosomal recessive mutations in ATP8B1, which encodes the putative phospatidylserine flippase ATP8B1 (formerly called FIC1). ATP8B1 deficiency is primarily characterized by cholestasis, but extrahepatic symptoms are also found. Because patients sometimes report reduce...

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Hlavní autoři: Stapelbroek, Janneke M., Peters, Theo A., van Beurden, Denis H. A., Curfs, Jo H. A. J., Joosten, Anneke, Beynon, Andy J., van Leeuwen, Bibian M., van der Velden, Lieke M., Bull, Laura, Oude Elferink, Ronald P., van Zanten, Bert A., Klomp, Leo W. J., Houwen, Roderick H. J.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2009
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2700994/
https://ncbi.nlm.nih.gov/pubmed/19478059
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0807919106
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