We detected the presence of a recently described SDHB gene large deletion.
2
However, no base substitution or deletion was detected in the CPP3 patients.
3
Molecular investigations showed that one case had a 3' deletion of MLL.
4
Of note, the CriP-mediated Nrip1 deletion did not produce detectable off-target effects.
5
A dual guide approach improved gene deletion efficacy in both cell types.
1
The results are consistent with a dominant negative mechanism for the deletionmutation.
2
We describe a kindred with GT in which the affected individuals have a unique inversion- deletionmutation in the gene for GPIIIa.
3
Replacement of Cys937 with Ala abolished the ability of the cloned EPEC intimin to complement the deletionmutation in DBS255.
4
A novel 12 bp deletionmutation (KHNG484-488) on KIT exon 9 was detected in a small intestinal GIST.
5
By sequencing the coding regions of CRYAB, we found in exon 3 a deletionmutation, 450delA, that is associated with cataract in this family.
1
A dual guide approach improved genedeletion efficacy in both cell types.
2
CHOP genedeletion in SCs decreased cell death in response to TNF-a.
3
Quantitative polymerase chain reaction indicated total WASP genedeletion in the proband.
4
Aromatase genedeletion in female mice exacerbates ischemic brain damage after stroke.
5
In addition, essential genes were predicted via single genedeletion studies.
Uso de chromosomal deletion em inglês
1
A stable chromosomaldeletion in the ldhL gene was then constructed in L. plantarum by a two-step homologous recombination process.
2
In one, however, the mother has a chromosomaldeletion that can cause DiGeorge syndrome, which is marked by heart, neuromuscular and cognitive problems.
3
The HPV16 integration event gave rise to a short chromosomaldeletion limited to the local FRA3B region within 3p14.2.
4
These chromosomaldeletions are closely related to hepatitis B virus (HBV) infection.
5
Additional chromosomaldeletions were found in several chromosomal arms.
6
Multiple specific chromosomaldeletions can be found in human epithelial ovarian cancer by cytogenetic analysis or molecular techniques.
7
These findings have implications for understanding mechanisms of metastasis, and suggest that identifying patients with chromosomaldeletions at DIAPH3 may have prognostic value.
8
To generate chromosomaldeletions, we used pollen irradiation in male plants to produce hermaphroditic mutants (bsx mutants) in which carpel development was restored.