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inherited diseases

Saturday 22 November 2003

About 4000 inherited diseases were known in 2003.


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- Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet. 2003 Mar;33 Suppl:228-37. PMID: 12610532

- Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 1998 Oct;14(10):417-22. PMID: 9820031