Trinucleotide Diseases and Instability 87 1Bewertungsverfahren49

1Bewertungsverfahren49

Januar 2005 eine Neuregelung zu treffen

Empirische Befunde und Perspektiven

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Trinucleotide Diseases and Instability 87 1Bewertungsverfahren49Till recently, mutations in genes were described in textbooks as deletions or point mutations. These mutations can be inherited from a parent or they are de novo alterations. The discovery in 1991 that human disease can be caused by large scale ex pansion of highly unstable trinucleotide repeats has elucidated a new mutation mechanism, heritable unstable DNA. In the subsequent years more then 10 such disease genes have been identified. All dynamic