Article
Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease.
Genome research - 1 Mar 2012
Casola Claudio, Zekonyte Ugne, Phillips Andrew D, Cooper David N, Hahn Matthew W
Abstract excerpt
Establishing the molecular basis of DNA mutations that cause inherited disease is of fundamental importance to understanding the origin, nature, and clinical sequelae of genetic disorders in humans. The majority of disease-associated mutations constitute single-base substitutions and short deletions and/or insertions resulting from DNA replication errors and the repair of damaged bases. However, pathological...
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