Sentence examples for mutation reporting from inspiring English sources

Previously, there are only two studies investigating the relationship of RASSF1A promoter methylation and EGFR mutation, reporting absent [ 13] or borderline [ 47] correlation between these two events.

However, the majority of current analyses of mutations in these genes are usually restricted to single amino-acid mutation hotspots, and mutation reporting is limited to a simple binary 'wild-type' or 'mutant' classification.

The predominant mutation reported is a single transversion in exon 15 (T1799A).

The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer, and the germline TP53 R337H mutation is the most common mutation reported to date.

Case 15 was a homozygous carrier of the 157C>T mutation, reported earlier [14] [16].

The new mutation reported here should be added to the long list of pathogenic variations described in the PYGM gene.

In contrast to the SMC1 mutations, for the only SMC3 coil mutation reported for CdLS patients (E488Del), COILS predicts it will not impact the coil negatively.

Although the N-propeptide domain is very highly conserved, this mutation is only the third mutation reported in this domain [10], [11].

Another mutation reported is missense mutation in the tyrosine kinase domain (TKD) of the FLT3 gene.

A common ancestor for families with c.5263_5264insC mutation, reported from Europe, Brazil, North America and India is evident [ 34– 34].

The T193I mutation reported here, may affect the three dimensional structure of the protein.