January 2018
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Since Jan 10, 2008



MUTDB : Thailand human mutation and variation database
link: http://www.biotec.or.th/thaimut


Human gene mutation is a highly specific process, and this specificity has important implications for the nature, prevalence and therefore diagnosis of genetic disease. Indeed, the recognition that certain DNA sequences are hypermutable has yielded clues as to the endogenous mutational mechanisms involved and provided insights into the intricacies of the processes of DNA replication and repair (Cooper and Krawczak 1993). In practical terms, a fuller understanding of the mutational process may prove important in molecular diagnostic medicine by contributing to improvements in the design and efficacy of mutation search procedures and strategies in different genetic disorders. BIOTEC Thailand Human Mutation Database (THMDB) represents an attempt to collate known (published) gene lesions responsible for human inherited disease. This database, whilst originally established for the study of mutational mechanisms in human genes (Cooper and Krawczak 1993), has now acquired a much broader utility in that it embodies an up-to-date and comprehensive reference source to the spectrum of inherited human gene lesions. Thus, THMDB provides information of practical diagnostic importance to (i) researchers and diagnosticians in human molecular genetics, (ii) physicians interested in a particular inherited condition in a given patient or family, and (iii) genetic counsellors.

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