News tagged with point mutation

Cellular channels vital for hearing identified

Ending a 30-year search by scientists, researchers at Boston Children's Hospital have identified two proteins in the inner ear that are critical for hearing, which, when damaged by genetic mutations, cause a form of delayed, ...

Jul 18, 2013
popularity 0 comments 1

Researchers identify gene variant in Proteus syndrome

A team of researchers has identified the genetic mutation that causes Proteus syndrome, a rare disorder in which tissue and bone grows massively out of proportion. The discovery, which has implications for potential drug ...

Jul 27, 2011
popularity 0 comments 0