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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
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.
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.
Использование термина deletion mutation на английском
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.
6
First, we constructed a recombinant which contains both a G2R deletionmutation and an A18R temperature-sensitive mutation and found that this recombinant was viable.
7
In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletionmutation of TRPV4.
8
To date, only four nonsense or small deletionmutations have been reported.
9
Likewise, deletionmutations disrupting the apoE-NS5A interaction resulted in blockade of HCV production.
10
MtDNA deletionmutations were identified in skeletal muscles of all patients.
11
Six showed insertional mutation, and three showed deletionmutations.
12
Deletionmutations in these two genes in animal models mark the progression from adenoma to carcinoma.
13
Only five deletionmutations yielded lethal phenotypes, and these were colinear, spanning a 56-amino-acid region within domain II.
14
We constructed and characterized in-frame deletionmutations in several FrzS domains to determine their roles in protein localization.
15
We report identification of a novel small deletionsmutation in the RUNX2 gene in a Chinese family with CCD.
16
In addition, two heterozygous deletionmutations and five heterozygous duplication mutations within PARK2 were identified in PD subjects and controls.