Sentence examples for mutation screen demonstrated from inspiring English sources

Our candidate mutation screen demonstrated that protein-coding mutations in NR2E1 do not contribute to cortical and behavioral abnormalities in the patients examined here.

All three categories of mutant have been retrieved in this screen, demonstrating that it is possible to genetically separate the effects of a dms4 mutation on RdDM and development.

Electrophysiology experiments on sperm from Patient 1 showed a near absence of CatSper current and exon screening demonstrated no mutations in the coding regions of the CatSper complex.

Genomic screening demonstrated a c.1216C>T (p.Arg406Trp) mutation of the microtubule-associated protein tau (MAPT) gene.

Molecular genetic screening demonstrated a maternally transmitted m.1555A>G MTRNR1 mtDNA mutation that is characteristically associated with aminoglycoside-induced hearing loss.

These screens demonstrate that mouse provirus insertion mutation models are able to efficiently identify genes involved in human cancer.

A mutation screen in all cases failed to detect a mutation.

Previously, we used data from mutation screening of ATM in breast cancer patients and controls to demonstrate the ability to detect evidence of pathogenicity from both truncating and splice junction variants (T+SJV) and rare missense substitutions (rMS) [ 7].

Mutation screening in human CHD patients and functional studies will provide further evidence to demonstrate their causal relevance with CHD.

These findings demonstrate the feasibility of using the mismatch-specific endonuclease method as a tool for mutation screening.

Screening of databases for somatic mutation in cancer demonstrated that the most frequently mutated AM protein-encoding genes are the protooncogene BRAF (mutated in 100% of cancer models) and the tumour suppressors CDKN2A and TP53.