Sentence examples for mutations that lay from inspiring English sources

We therefore screened 38 CHD-affected subjects for TBX20 mutations and found three missense mutations that lay within exons encoding the transcriptional activator domain.

To characterise hotspot mutations detected by RFLP and identify mutations that lay outside the codons examined, the p53 exons 5 8 from each sample were sequenced in both forward and reverse directions.

Finally, we analyse the impact on kinase activity of ten disease-causing missense mutations that lie outwith the protein kinase domain of TRPM6.

Thus, these observations should also aid in the genetic counseling of patients with germline PTEN missense mutations that lie anywhere in the ATP-binding domains.

To test this, we introduced a series of cysteine pair point mutations along the GED and middle domains, including mutations that lie within the dimer interface, and expressed these proteins in insect cells.

In order to evaluate if so far undetected causative mutations that lie in linkage disequilibrium with one of the detected SNPs may contribute to the disease outcome a straightforward SNP-based association analyses was conducted.

As described in the Methods section, it is possible to separate the contribution to w(d) of neutral mutations that lie on the same network wneut(d) from the contribution wcomp(d) that reflects compensatory mutations from neighboring neutral networks onto the reference network.

IL4 rs2243250 is a C-to-T mutation that lies upstream from the open reading frame of the gene.

In particular, the node corresponding to V1641I is another mutation that lies within the CD8+ T-cell epitope 1633RLGPVQNEV1641.

It is intriguing that mislocalization to all three subcellular sites is seen not only with the H425Y mutant but also with the jck equivalent G442V mutation that lies within the same RCC1 repeat.

The P201S mutation that lies at a highly conserved residue across mammalian species, in the L0-linker loop of the TMD0-L0 gatekeeper module of SUR1 (16), was not present in 330 normoglycemic French subjects.