Sentence examples for disease segregating mutation from inspiring English sources

Analysis of the Jutland pedigree identified a disease segregating mutation in CHMP2B (4, 5).

The pathogenicity of each novel disease-segregating mutation was predicted by four computational methods: MutPred (http://mutpred.mutdb.org/), SNPs&Go (http://snps-and-go.biocomp.unibo.it/snps-and-go/), Mutation taster (http://www.mutationtaster.org/), and SIFT (http://sift.jcvi.org/).jcvi.org/

We identified one family in whom disease segregated with a novel TRPC6 mutation (M132T), that also affected pediatric individuals as early as nine years of age.

In a French autosomal dominant family, the disease segregated with a heterozygous missense mutation that had a dominant negative effect on the capacity of the wild-type protein to bind membranes.

Early evidence for the genetic effect in obesity and diabetes was found through linkage studies of monogenic forms of these diseases segregating as Mendelian disorders, in which mutations occurring in a gene lead to extreme and early-onset forms of these conditions.

A disease-segregating mutation resulting in p.Gly171Ala was identified in the SORT1 gene through WES analyses.

A disease-segregating mutation (p.Gly171Ala), absent in normal population, was identified in the SORT1 gene.

Overexpression of LRRK2 harbouring this disease-segregating mutation leads to neurotoxicity in vivo, and such neurotoxicity is linked to the kinase activity of LRRK2 (8– 11).

More recently, a disease-segregating mutation (p.G399S) in the HTRA2 gene has been reported in a large kindred featuring both ET and Parkinson's disease (Unal Gulsuner et al., 2014).

Results: No segregating mutations were identified in any of the eight genes.

Twenty-five familiesegregatingng BRCA1 mutations and 27 families segregating BRCA2 mutations were eligible for inclusion in the analysis.