Significats de deletion mutation en anglès

The results are consistent with a dominant negative mechanism for the deletion mutation.

We describe a kindred with GT in which the affected individuals have a unique inversion- deletion mutation in the gene for GPIIIa.

Replacement of Cys937 with Ala abolished the ability of the cloned EPEC intimin to complement the deletion mutation in DBS255.

A novel 12 bp deletion mutation (KHNG484-488) on KIT exon 9 was detected in a small intestinal GIST.

By sequencing the coding regions of CRYAB, we found in exon 3 a deletion mutation, 450delA, that is associated with cataract in this family.

First, we constructed a recombinant which contains both a G2R deletion mutation and an A18R temperature-sensitive mutation and found that this recombinant was viable.

In MD, a recurrent P799L mutation was identified in nine subjects, as well as 10 novel mutations including F471del, the first deletion mutation of TRPV4.

To date, only four nonsense or small deletion mutations have been reported.

Likewise, deletion mutations disrupting the apoE-NS5A interaction resulted in blockade of HCV production.

MtDNA deletion mutations were identified in skeletal muscles of all patients.

Six showed insertional mutation, and three showed deletion mutations.

Deletion mutations in these two genes in animal models mark the progression from adenoma to carcinoma.

Only five deletion mutations yielded lethal phenotypes, and these were colinear, spanning a 56-amino-acid region within domain II.

We constructed and characterized in-frame deletion mutations in several FrzS domains to determine their roles in protein localization.

We report identification of a novel small deletions mutation in the RUNX2 gene in a Chinese family with CCD.

In addition, two heterozygous deletion mutations and five heterozygous duplication mutations within PARK2 were identified in PD subjects and controls.