News tagged with mutant gene

Mutation found in patients without a nose

A mutated gene in patients lacking a nose has been identified by an international team, a first step toward understanding nose development and possible therapies for another condition.

Sep 15, 2017
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Oxidative stress on the brain

Smith-Lemli-Opitz syndrome (SLOS) is a rare disease that occurs when patients inherit from both parents defects in the Dhcr7 gene, which encodes the last enzyme in the cholesterol biosynthesis pathway. A large portion of ...

Aug 24, 2017
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