Nucleic Acid Structures and the Transcription Defects in Fragile X Syndrome and Friedreich’s Ataxia

作者: Karen Usdin

DOI: 10.1007/0-387-29148-2_9

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摘要: Fragile X mental retardation syndrome (FXS) and Friedreich ataxia (FRDA) belong to a group of genetic disorders known as the Repeat Expansion Diseases. These diseases all result from expansion specific tandem repeat. repeats form variety secondary structures that have been suggested play role in this expansion. In addition, properties these suggest ways which expanded repeat could contribute disease pathology. The FXS FRDA are transcribed but not translated, leads aberrant transcription affected genes. This chapter discusses types nucleic acid formed by their potential consequences for

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