Article
Human gene mutation database-a biomedical information and research resource.
Human mutation - 1 Jan 2000
Krawczak M, Ball E V, Fenton I, Stenson P D, Abeysinghe S, Thomas N, Cooper D N
Abstract excerpt
Although 20 years have elapsed since the first single basepair substitution underlying an inherited disease in humans was characterised at the DNA level, the initiative has only recently been taken to establish central database resources for pathological genetic variants. Disease-associated gene lesions are currently collected and publicised by the Human Gene Mutation Database (HGMD) in Cardiff, locus-specific...
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