The American Journal of Human Genetics
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Description: Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder.
(January 11, 2001)
Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder Public release date: 10-Jan-2001 Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder
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| Page title: | Scientists identify the gene for familial dysautonomia, a degenerative neurological disorder |
| Keywords: | Biology Genetics Medicine/Health |
| Description: | In the March issue of The American Journal of Human Genetics, two groups report that mutations in the IKBKAP gene, encoding the protein IKAP, cause Familial Dysautonomia (FD). Two single base pair mutations in this gene account for nearly 100% of FD cases, and this finding will revolutionize genetic testing and hopefully lead to a cure for this devastating disorder. |
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