Sentence examples for mutations are causative from inspiring English sources
Even though these observations support the importance of N34S mutations in ICP, it still remains to be determined whether N34S mutations are causative.
Keratin gene mutations are causative for a large number of dominantly inherited diseases, including epidermolysis bullosa simplex.
Since not all non-synonymous mutations are causative, we add a step to differentiate functional variants from background neutral variation based on the specific amino acid substitutions using existing prediction algorithms, e.g., PolyPhen [19] and SIFT [21].
In this study, we identified two missense mutations in B3GNT1 in a family affected with WWS and showed that these mutations are causative for the disease.
GCK mutations are causative alleles in a monogenic form of diabetes [ 27], making it a strong candidate to further validate our approach.
Several gene mutations are causative of the familiar form of the disease and the corresponding mutant proteins often mislocalize and aggregate in the cytoplasm.
One indeed had a mutation in this gene and the mutated gene was unable to complement yeast sdh5Δ strains, strongly suggesting that the mutation was causative.
This conventional approach is not applicable to the study of human male infertility, because infertile men lack biological offspring; it is therefore difficult to determine whether a mutation is causative.
AR action is a conditio sine qua non for the normal development and function of the entire male genital tract; conversely, varyingly degrees of impaired AR action from mutation is causative in individuals affected by androgen insensitivity syndrome (AIS) [1], [2].
The same mutation is causative in the most prevalent form of autosomal dominant retinitis pigmentosa (adRP) in North America, being linked to approximately 12% of human cases [10].
The P23H results are more relevant for the treatment of human disease, since this same mutation is causative in approximately 12% of human adRP cases in North America [10].
