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All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding
Mutations in the inositol 5-phosphatase OCRL are responsible for Lowe syndrome, an X-linked disorder characterized by bilateral cataracts, mental retardation, neonatal hypotonia, and renal Fanconi syndrome, and for Dent disease, another X-linked condition characterized by kidney reabsorption defects...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2008
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2442618/ https://ncbi.nlm.nih.gov/pubmed/18307981 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2008.02.067 |
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