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URL: http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=OCRL
Proper Citation: Lowes Syndrome Mutation Database (RRID:SCR_002907)
Description: The Lowe Syndrome Mutation Database is now being maintained by the National Center for Biotechnology Information (NCBI) at the National Institutes of Health. A database of mutations causing Lowe syndrome. Information on new mutations may be submitted online. Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105-kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5-phosphatase activity. genetics
Synonyms: Lowe Syndrome Mutation Database
Resource Type: data repository, data or information resource, database, service resource, storage service resource
Keywords: mutation
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