期刊介绍：

Human Mutation is a peer-reviewed journal that offers publication of original Research Articles Methods Mutation Updates Reviews Database Articles Mutations in Brief (MIBs) Rapid Communications and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences reports of SNPs demonstrated as valuable for genomic analysis descriptions of new molecular detection methods and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level reported in the context of mutation investigation may be considered. The journal provides a unique forum for the exchange of ideas methods and applications of interest to molecular human and medical geneticists in academic industrial and clinical research settings