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Gene mutations involved in chondrogenesis cause chondrodysplasias and other skeletal defects.
His lab is also attempting to define the genetic mutations involved in high risk of autism.
Researchers have developed a new test designed to simultaneously detect genetic mutations involved in more than 400 severe diseases.
Finally, heredity — like the BRCA mutations involved in some breast cancers — can have a profound effect in individual cases.
By sequencing the dog genome, the Broad Institute has accelerated the search for mutations involved in human diseases.
Wistuba, I. I. et al. Allele-specific mutations involved in the pathogenesis of endemic gallbladder carcinoma in Chile.
But Counsyl has customized the technology to test the mutations involved in rare inherited diseases.
The logarithms of the slopes suggest large differences in the apparent numbers of mutations involved in different cancers.
The new research, by looking at the entire genome — all the DNA — and aiming to find all the mutations involved in a particular cancer, differs markedly from earlier studies, which have searched fewer genes for individual mutations.
The field of cancer systems biology has made great strides in understanding oncogenic pathway signaling and enumerating mutations involved in oncogenesis.
We retrospectively studied their occurrence in the initial PCR assay for 30,769 patient reports for mutations involved in four diseases produced over 8 years.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com