Sentence examples for missense mutations from inspiring English sources

Missense mutations that disrupt LIS1 function block LIS1-mNudE binding.

Pathogenic deviations (PDs) in humans are disease-causing missense mutations.

Missense mutations in DCX cause severe brain defects.

Other mutations include nonsense mutations, missense mutations and in-frame deletion (Everett, 2011).

Open image in new window Figure 5 Distributions of the missense mutations in Nav1.1 and Nav1.5.

(A) Distributions of Nav1.1 missense mutations on the Nav1.7 model structure.

No gyrB missense mutations were found in any of the clinical isolates.

Pharmacologic restoration of the trafficking defects of HERG missense mutations has been documented.

Here we describe an autosomal recessive form of severe congenital hypotonia associated with CHT N-terminal missense mutations.

Missense mutations in this region (e.g. LATS1-D871Y) may have an impact on the kinase activity (Fig. 1).

Missense mutations W93A and D95A abolish the interaction between Tob and CNOT7 in vitro and in vivo.