New Genetic Test Opens Up Possibilities for Prevention and Treatment of Rare Genetic Diseases
Professor Sandra Cooper, Joint Head of the Kids Neuroscience Centre at the Children’s Hospital at Westmead, has developed a new way of testing traditionally hard-to-identify genetic mistakes called splicing variants. These variants occur when mutations in the non-coding region of the DNA interrupt splicing – a crucial step in the transformation of DNA into the proteins that make … Read more
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