DATABASE: Broken Genes

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Science  02 Sep 2005:
Vol. 309, Issue 5740, pp. 1467
DOI: 10.1126/science.309.5740.1467e

Many changes, such as a lost DNA segment or stretches of flipped nucleotides, can corrupt genes and cause disease. The Human Gene Mutation Database, hosted by Cardiff University in the United Kingdom, identifies the errors that contribute to a long list of ailments—from the rare immune disorder Chediak-Higashi syndrome to common maladies such as type II diabetes. The expanding clearinghouse lists more than 47,000 disease-linked glitches in our DNA, all gleaned from published papers. Users can search the database by gene or by illness. The results, organized by type of mutation, connect to PubMed abstracts.

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