Children's Hospital of Philadelphia

Gene mutation discovered in blood disorder

An international team of scientists has identified a gene mutation that causes aplastic anemia, a serious blood disorder in which the bone marrow fails to produce normal amounts of blood cells. Studying a family in which ...

Sep 23, 2014
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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
popularity 4.3 / 5 (3) | comments 0 | with audio podcast