Experiments that construct or discover protein point-mutations and investigate their functional consequences represent one of the cornerstones of biomedical investigation. And yet, despite the ...

EGFR mutations show up as deletions (parts are missing), insertions (extra segments are present), or point mutations (only a few small nucleotides are affected) in your EGFR gene.

European Journal of Human Genetics - A Point Mutation in the XNP Gene, Associated with an ATR-X Phenotype without α-Thalassemia Skip to main content Thank you for visiting nature.com.

Point mutations in non-protein-coding DNA sequences can also have functional consequences, particularly if they affect a regulatory element. Regardless of the consequence of a point mutation, ...

William Vainchenker had long suspected a rogue JAK2 tyrosine kinase to be the cause of the myeloproliferative disorder, polycythemia vera. But with very limited resources at his disposal at the ...

Some people can feel well-rested and show no negative effects of sleep deprivation, even after just 4 hours of sleep, which is likely the result of a genetic mutation. A recent study ...

This conversion is particularly useful as mutations in which G C is mutated to an A T base pair account for almost 50% of single-point mutations associated with human genetic diseases.

Physical mutagens most often result in chromosome changes and larger DNA deletions while mutagenic chemicals typically cause point mutations. The degree of mutation also depends on the tissue and the ...