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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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Main Authors: | , , , , , , , , , , , , |
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Format: | Artigo |
Language: | Inglês |
Published: |
National Academy of Sciences
2009
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Subjects: | |
Online Access: | 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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