Sentence examples for disease being mutation from inspiring English sources

Our genetic analysis reveals the first cause for this disease being mutation of PRIMA1.

Within LMNA mutant families, there are strikingly variable phenotypes and the mechanism by which an individual LMNA missense mutation causes disease may be mutation specific.

One of the main genetic features of this disease is TP53 mutation.

One theory of the disease is that mutations in this gene lead to overexpression of a specific receptor in the brain.

He told the BBC: "About two-thirds of known human genetic variants associated with disease are point mutations.

"Most human genetic variants that cause disease are point mutations -- a single base pair that for whatever reason has been changed to a different base pair," said David Liu, a chemical biologist at Harvard University and the senior author of the paper.

Alagille syndrome, a developmental disease, is associated with mutations in Jagged1 and in less extent with mutations in Notch2.

As we have said, not all forms of mitochondrial disease are caused by mutations in the mt-DNA, but it is only disease caused by such mutations that the clinician-scientists hope to tackle using PNT/MST.

This disease is caused by mutations in the genes encoding for peroxisomal pexin (PEX) proteins.

Rust, S. et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

Type III galactosemia, an inherited metabolic disease, is associated with mutations in human GALE.