Sentence examples for mutation causing from inspiring English sources

Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.

Xu, Y. et al. Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome.

With a MAF of 0.048, this mutation causing early termination cannot be ignored.

Ikonen, E. et al. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

Researchers at the University of Pennsylvania announced last month that they had identified the genetic mutation causing the disorder.

To find the mutation causing the first two reported cases of analbuminemia.

Among the large number of mutations, however, no exonic mutation causing exon skipping has been described.

The fish has a splice site mutation causing abnormal splicing of nebulin exon 43.

Riikonen, A. et al. Dissection of the molecular consequences of a double mutation causing a human lysosomal disease.

Tamary, H. et al. Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews.

Lee, H. S. et al. Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt Jakob disease.