News tagged with rare mutations

Research team identifies new genetic syndrome

Researchers at the National Institutes of Health (NIH) have identified a new genetic syndrome characterized by a constellation of health problems, including severe allergy, immune deficiency, autoimmunity and motor and neurocognitive ...

Mar 04, 2014
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Study pinpoints protective mutations for type 2 diabetes

An international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk ...

Mar 02, 2014
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Rare mitochondrial mutations—maybe not so rare?

French scientists have discovered that supposedly rare mutations in the mitochondria, the 'power plants' of human cells responsible for creating energy, account for more than 7% of patients with a mitochondrial disease manifesting ...

Jun 08, 2013
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