Sentence examples for mutations there was from inspiring English sources

For all three patients with these mutations there was intrafamilial phenotypic heterogeneity, as well as differences from phenotypes reported in the literature.

However, for some of the other mutations, there was only one amongst a variety of assays that showed a deviation from the wild-type receptor (e.g. Thr112Met; wild-type function in [9], [21], [23]; only Nijenhuis et al. [24] described a reduced receptor function).

In all but two of these cases, both with BRCA2 mutations, there was homozygosity at the affected gene due to LOH.

For the three BOR mutations, there was less otic sensorial tissue formation and some embryos (R345Q, Figures 5 and 6) had no discernible otic sensory tissue.

We could show that where there were two truncating ATM mutations there was always absence of ATM protein (Supplementary Table S1).

Of the 778 children for whom FLG genotype data were available for all six of the screened mutations, there was one homozygote, eight compound heterozygotes (i.e. children carrying two different FLG null alleles) and 98 heterozygotes.

"With certain BRCA mutations there is an increased risk of pancreatic cancer, prostate cancer," Yamada said.

But by experimenting with mutations there is a strong possibility they'll be able to cultivate hardier plants that can be farmed in northern Western Australia.

In addition to loss of chromosomal material and intragenic mutations there is a third mechanism, DNA methylation, which may have an important role in gene inactivation.

Within the set of deleterious mutations there are n classes according to their effect size: those with deleterious effect s i arise at genomic rate U i. The combined deleterious rate across all mutations is ∑ i U i = U.

Alleles in white flowered types are represented by a restricted set of haplotypes; for the intron 6 splice donor site mutation there are just two haplotypes in the vicinity of the mutation (Fig. S3C).