News tagged with clinical test

Muscle health depends on sugar superstructure

For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of ...

Aug 08, 2013
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25 new autism-related gene variants discovered

Genetics researchers have identified 25 additional copy number variations (CNVs)—missing or duplicated stretches of DNA—that occur in some patients with autism. These CNVs, say the researchers, are "high impact": although ...

Jan 14, 2013
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