Sentence examples for mutations may present from inspiring English sources
On the other hand, we must not forget that families with known FHM mutations may present a complex phenotypic spectrum without motor aura symptoms [21].
Other patients with CYP24A1 mutations may present with nephrolithiasis later in life [ 8, 10].
Although the smaller mutations may present problems in detection, the larger regions of deletion are readily identifiable by genomic screening.
Although we cannot rule out additional mutations or environmental effects, the reported case suggests that COL4A5 mutations may present with proteinuria and in our case also with haemolysis.
Individuals with somatic mutations may present with variable phenotypes and severity depending on how many and which cells carry the mutation.
As CEP63 is expressed in brain and involved in mechanisms of cell division, we hypothesised that individuals heterozygous for CEP63 mutations may present mild defects in neuronal cell migration and proliferation leading to the cognitive problems associated with DD.
This finding suggests that the p.R299X LTBP2 defect may represent an ancient founder mutation and may present either as PCG or as megalocornea, spherophakia, and secondary glaucoma.
Patients with germline mutation in hMLH1 may present with cancer at younger ages compared to those with a hMSH6 germline mutation [29].
Some studies on HHRH cohorts, have shown that heterozygous carriers of the mutation, although asymptomatic, may present with hypercalciuria which puts them at a higher risk of developing nephrocalcinosis [3].
Furthermore, limited evidence from MSI analysis of a single tumour carrying a BRCA1 W1837R variant has been interpreted to suggest that missense mutations in the BRCT domain may present with a microsatellite-unstable tumour phenotype [ 8].
We note that the present computational approach to identify critical mutations remote from the interface may present a first step towards a designed allosteric switch.[ 21] Supporting information for this article is available on the WWW under http://dx.doi.org/10.1002/anie.org/10.1002/anie
