Sentence examples for mutation types have from inspiring English sources

It results from a genetic mutation affecting bone metabolism and remodelling, and at least 15 mutation types have been identified so far [22, 23].

Many different mutation types have been identified in SCAs (www.scabase.eu).eu

While the majority of mutations observed in gliomas are R132H, other mutation types have been reported.

Genetic defects have been identified in most of the genes where nearly all types of sequence variations (mutation types) have been associated with disease [ 1].

In the present study, patients had a variety of SDHB mutation types: 13 had deletions (PGLs 11/PHEOs 2), 7 had frame-shift mutations (PGLs 4/PHEOs 3), 41 had missense mutations (PGLs 33/PHEOs 8), 24 had nonsense mutations (PGLs 20/PHEOs 4), and 21 had splice site mutations (PGLs 17/PHEOs 4).

However, studies devoted to testing for the presence of FHM mutations in additional migraine types have yielded negative results [1].

Until now, specialized genetic constructs such as Big Blue mice or selective medium that can identify mutations in limited cell types have been required for direct examination of in vivo mutagenesis in tissues.

Comprehensive catalogues of mutations in multiple cancer types have been assembled and fruitfully used to identify new diagnostic, prognostic and therapeutic targets (Barretina et al., 2012; Garnett et al., 2012; ICGC et al., 2010; TCGA et al., 2008).

Mutations in introns, a (CTG) n -Notch4 polymorphism in exon 1 [ 16], non-synonomous mutations and cell types having less than 5 cell lines were also filtered out.

Loss of V-ATPase activity due to subunit mutations in specific cell types has been implicated in diverse pathophysiological states such as kidney and bone disease, sensorineural deafness and wrinkly skin syndrome [7] [10].

Both TIC cell types had mutations in either BRAF or KRAS and both in PIK3CA genes that may render patients insensitive to treatment with signal inhibitory anti-EGFR therapeutics [45], [46].