Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > inherited diseases

inherited diseases

Saturday 22 November 2003

About 4000 inherited diseases were known in 2003.

References

 Steward RE, MacArthur MW, Laskowski RA, Thornton JM. Molecular basis of inherited diseases: a structural perspective. Trends Genet. 2003 Sep;19(9):505-13. PMID: 12957544

 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