Significats de negative mutation en anglès

Intronic mutations may be responsible for LQTS in some families with otherwise negative mutation screening.

This sequence diversity can result in both false-positive and false- negative mutation analysis at this locus.

Okay, first, let's walk through what a positive versus a negative mutation screen would mean for you.

These findings indicate that human P. vivax is of African origin and likely selected for the Duffy- negative mutation.

Two of these patients would not have received a BRAF inhibitor on the basis of the initial false- negative mutation testing result.

The functional effect of TASK-2 blunted activity caused by a dominant- negative mutation on steroidogenic enzymes, and aldosterone production was also assessed.

Importantly, cells expressing a dominant negative mutation in BACH1 that results in a defective helicase displayed increased activation of DNA damage checkpoints and genomic instability.

Several dominant negative mutations were also identified, including two C terminal truncations.

We suggest gain-of-function or dominant- negative mutations resulting in FAM111B enzymatic activity changes.

A much more severe phenotype is seen in patients with Denys-Drash syndrome which results from heterozygous dominant- negative mutations of the gene.

This is the first report linking dominant negative mutations of a G protein-coupled receptor to an abnormal endocrine phenotype in heterozygous patients.

Dominant- negative mutations in STAT-3 have recently been found in the majority of patients with sporadic or autosomal-dominant hyper IgE syndrome (HIES).