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Varga, R. et al. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.
Later studies added support to the idea that cancer is a result of mutations in specific cells.
Another 12,000 people suffer from hemophilia A, the result of mutations in the gene for Factor VIII, also a vital component of the body's blood-clotting system.
Our individual stories can take unpleasant turns when our genes malfunction as a result of mutations that cause hereditary diseases or cancers.
Many inborn errors of metabolism are the result of mutations inherited in maternal mitochondrial DNA.
Genetic reduction of KCNQ channel activity as a result of mutations causes various human diseases such as epilepsy and arrhythmia.
Twelve Arabidopsis thaliana genotypes that have varied stomatal characteristics as a result of mutations or transgenes were analyzed in this study.
Amino acid polymorphisms may occur naturally due to the existence of variations within and between viral strains or as the result of mutations associated with drug resistance.
Classical late infantile neuronal ceroid lipofuscinosis (cLINCL) is a monogenic disorder caused by the loss of tripeptidyl peptidase 1 (TPP1) activity as a result of mutations in CLN2.
Dysregulation of the alternative pathway of complement may occur as a result of mutations or functional inhibition of complement-regulating proteins.
PHILADELPHIA (Dec. 5, 2007) — Cancer popularly understood as a result of mutations or mistakes within the genetic code in cells is also caused by infections from viruses, bacteria and parasites.
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