Thalassemia is caused by a single mutation in the genetic code.
This was achieved by a single mutation of Glu192 to Asn.
Loss of function of the CRAC channel by a single mutation in its structural gene leads to a devastating severe combined immunodeficiency (SCID) syndrome in humans.
This effect is eliminated at low salt concentrations by a single mutation of a hydrophobic residue within BH19 sequence, which is most probably involved in non-native interactions.
Dr. Church said his approach was modular, so it could be tested at each stage, whereas Dr. Venter's whole genome was nearly brought down by a single mutation.
The condition is caused by a single mutation in the gene FGFR3, which provides instructions for making a protein involved in the development of bone and brain tissue.
It is caused by a single mutation in a gene that is the blueprint for one of the proteins in hemoglobin, the molecule that carries oxygen in red blood cells.
Sickle cell disease is a recessive genetic disorder caused by a single mutation in both copies of a gene coding for beta-globin, a protein that forms part of the oxygen-carrying molecule hemoglobin.
As biologists have gained a better understanding of cancer, it has become clear that tumors are often driven not by a single mutation, but by a series of genetic changes that correspond to particular stages of cancer progression.
The disease is caused by a single mutation in the gene responsible for the protein huntingtin, increasing the number of polyQ repeats and conferring a toxic gain of function to the mutant protein, which ultimately induces cell death.
With these two criteria in mind, it is understandable why the first experiment using human embryo editing aimed to repair a mutation for β-thalassemia and not one for type 2 diabetes, depression, or even cancer.9 β-Thalassemia is a recessive disorder caused by a single mutation.
