A K19E missense mutation in the plasminogen gene is a common cause of familial hypoplasminogenaemia. three different mutations, if inherited in a homozygous or compound-heterozygous manner, may be associated with the development of ligneous conjunctivitis. In... K Tefs,CR Tait,ID Walker,... -...
findGSE is a tool for estimating size of (heterozygous diploid or homozygous) genomes by fittingk-mer frequencies iteratively with a skew normal distribution model, which is written inR(code). The current version works on Linux & Mac OS X withRversion 3.3.1 or above. ...
a AA represents homozygous, AB represents heterozygous, and BB represents homozygous alternative. b The ancestral A haplotype accumulates SNPs, differentiating it into two versions of the A haplotype: A1 and A2. The ‘Y’ shaped haplotype tree represents the predicted evolutionary relationships between...
a 42-year-old female, contributed DNA to this study (Fig.5f, g). She harbours compound heterozygous variants inCFAP20, c.337C > T: p.(Arg113Trp); c.397delC: p.(Gln133Serfs*5).
For example, performing an intersect on the above example from 1000G specifying the 'heterozygous or homozygous variant' setting would require that all samples be heterozygous or homozygous for the variant. This example addresses a couple critical decisions we made while implementing the set operator ...
We next analyzed the relationship of H3K4 monomethylation and promoter DNA methylation in a mouse model harboring a germline loss-of-function mutation of Kmt2d. Here we restricted our analyses to splenic B cells of WT, heterozygous (HET), and homozygous (HOM) Kmt2d mutants due to the previous...
(C) Comparison between homozygous ephA4WT/WT and ephA4EE/EE of two independent heterozygous crosses. Note that the ephA4EE/EE mice did not show any symptom of synchronicity and that they had a perfect alternating walking behavior even when an inactive copy of the ephA4GFP receptor was ...
In some heterozygous lines (#1), only the glands of DGT were inhibited, whereas all glands in both PGT and DGT were suppressed in homozygous lines (#3, Supplementary Fig. 17a–c). Fig. 7: GCR1/2 directly repress the expression of LFS. a Venn diagram showing the overlap of up-...
The anti-tuberculosis regimen containing rifampicin has been shown to increase efavirenz clearance in subjects with a wildtype CYP2B6 allele but decreases the clearance in those homozygous for defective variant alleles26. In one of our previous studies, we found that in subjects with wildtype CYP2B6...
Mutation p.K1495E creates a novel recognition site for MboII. Thus, heterozygous carriers display a 93 bp fragment and healthy homozygous individuals show only a 115 bp fragment; mutation p.R344X abolishes a recognition site for endonuclease BSh1236I. Thus healthy individuals display a 170 bp ...