Currently, no specific mutation in any gene has been found to cause the disorder.
Currently, no specific genetic mutation has been established as the cause of fibrochondrogenesis.
If we can find a specific mutation in a family member, we know exactly what to look for in a patient.
He developed a technique for introducing specific mutations into genes.
"It was a chance event that created the specific mutation," he said.
Some companies test for specific mutations in the coding region.
It also helps in deciphering what effect the specific mutation will have on the structure and function of the protein.
In addition, other family members may be tested for the presence or absence of this specific mutation.
His group has found some specific mutations - gene defects - that have never before been seen in these two diseases.
Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.