Sentence examples for mutation is causative from inspiring English sources

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.

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].

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].

Although we do have shown an association of this mutation with rectal cancer (manuscript in preparation), it is unlikely that this sole mutation is causative to oncogenesis, but it could contribute to enhance genetic instability, one of the major hallmark in cancer cells.

To confirm the suggestion that this mutation is causative for the sbr phenotype, we performed a screen for additional alleles.

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.

Even though these observations support the importance of N34S mutations in ICP, it still remains to be determined whether N34S mutations are causative.

To determine which mutation was causative, we first tested for allelism.

To further confirm whether this mutation was causative of mitochondrial dysfunction, we performed cybrid analysis (Data S1).

Challenges in identifying true drivers in tumors with a high rate of mutation still remain because it is difficult to determine if an identified mutation was causative or simply a consequence of the repair defect.