Computerized database More than 600 mutations have been caracterize in the LDLR gene. They are found in all the protein domains, with no particular hot spot described. In an effort to standardize the information regarding LDLR mutations, we have created a computerized database that currently contains informations about the published mutations of the low density lipoprotein receptor gene LDLR and some reported in meetings proceedings only. This database listes 535 reports of ponctual mutations and minors rearrangements. (update of September 2000). You want to know more about this database. What can you find and how to proceed? click on UMD-LDLR Database to got a complete explanation and a direct link to the database software. | | Major rearrangements Moreover, many major rearrangements were reported like insertion, deletion or duplication. They are not included in the database, but we decided to summary them (type of rearrangement, size, reference, populations ...). Four tables are proposed according to what you are are looking for. | | Note: these tables list rearrangements more than 99bp (insertions and deletions less than 99 bp are reported in the UMD-LDLR Database, with point mutations: see above). | | Direct access to mutations and publications To avoid a lost of time, you can access to the list of all the MUTATIONS and REFERENCES reported in the UMD-LDLR Database without making a software request. You can export all these data in "Microsoft Excel" format (for the mutations), "Microsoft Word" (for the publications) or "Acrobat Reader" (pdf). You can export the MUTATIONS in a long table (with genetical and clinical description), but is long !!! or in a minimum table (genetical description of the mutations and references). | | UMD-LDLR DATABASE | | Mutations | Long table(excel) |  | / | Long table legend(word) |  |  | Minimum table,with legend included(excel) | | | | References (Word) | | | You have suggestions, questions or improvements, mail me:  | varret@necker.fr | | |
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