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Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome

Lowe syndrome is an X-linked disorder that has a complex phenotype that includes progressive renal failure and blindness. The disease is caused by mutations in an inositol polyphosphate 5-phosphatase designated OCRL. It has been shown that the OCRL protein is found on the surface of lysosomes and th...

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Main Authors: Ungewickell, Alexander J., Majerus, Philip W.
格式: Artigo
語言:Inglês
出版: The National Academy of Sciences 1999
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC23949/
https://ncbi.nlm.nih.gov/pubmed/10557322
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