A mutation in which a part of a chromosome or a sequence of DNA is missing.
1
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.
6
Consistent with this, deletion of Mon1b causes similar defects in EE fusion.
7
In one family, a homozygous deletion of exon 4 could be demonstrated.
8
The deletion partially overlaps number of reported benign CNVs and pathogenic duplications.
9
This GT deletion is also characteristic for the recently identified p47-phox pseudogenes.
10
Haplotype analyses indicated that each recurrent deletion had a single common ancestor.
11
The deletion found in patient 2 probably arose from a similar misalignment.
12
Co-deletion was most common, but exon 2-specific homozygous deletion was also detected.
13
Coincidentally, a deletion of this region enhanced the IL-2-induced expression of beta-casein.
14
In contrast, Pten deletion in mouse organoids does not lead to folding.
15
To determine the role of TspA an isogenic deletion mutant was created.
16
Only 1 patient had no deletion but had an abnormal methylation pattern.
