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Inherited retinal degeneration results from many different mutations in either photoreceptor-specific or nonphotoreceptor-specific genes.
Although the gene involved has been identified, there is no screening test for Marfan's, because so many different mutations can be responsible for the syndrome.
Dr. Stefansson said the objection had no merit because many different mutations would be expected to exist for a disease as common as heart disease.
Traditionally, the tests look for specific mutations for a particular disease, while the condition could be caused by many different mutations that are passed from generation to generation.
Because many different mutations in the dystrophin gene can lead to muscular dystrophy, initially a CRISPR treatment wouldn't fix all of them.
At the DNA level there may be many different mutations that affect gene-expression levels, but very few potentially beneficial mutations that directly affect protein function.
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Many different mutation types have been identified in SCAs (www.scabase.eu).eu
Genetic testing has been an important clinical activity for over 20 years during which time many different mutation detection methods have been utilized and many thousands of clinically relevant variant datasets have been generated.
Over 25 different individual genes are now known to produce muscular dystrophy, and many different "private" mutations have been described for each individual muscular dystrophy gene.
Doctors unconnected with Vertex give use a more muted word to describe the new drug, tezacaftor: incremental, a small step along the path of coming up with a treatment for all the patients with the many different genetic mutations that can cause cystic fibrosis.
Many different PRNP mutations have been identified and these proteins are more likely to fold into abnormal prion.
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