Sentence examples for in two mutations from inspiring English sources

Overall SOD1 activity is normal or only slightly reduced in two mutations: the D90A in both homozygous and heterozygous patients, and the L117V in heterozygotes; although measurement from a homozygous patient showed a reduction of 67% SOD1 activity compared with control subjects (Andersen et al., 1995; Synofzik et al., 2012).

This resulted in seven mutations identified, with no two cells having the same mutation.

Altogether, we found that approximately one in five mutations occurred in a gene encoding an epigenetic regulator, with mutations to histone-modifying enzymes being the most common.

Idiopathic pulmonary fibrosis was diagnosed in one mutation-carrier individual.

To date, clinical symptoms and signs of MSTD have been observed in 16 mutation carriers with the H1H2 genotype and in seven mutation carriers with the H2H2 genotype.

A history of ovarian cancer was present in four mutation carriers from the unaffected group (2.3%), and in three women (1.7%) in the affected group.

In addition, two mutations in the AMP1 gene, two mutations in the PID1 gene, and one mutation in the VAR2 gene were identified.

These include 8 homozygous or 12 compound heterozygous cases, 5 cases in whom two mutations in one gene and a single mutation in a second gene were identified (triallelic), 3 patients in whom two mutations in different genes were identified (digenic), and 16 patients in whom only a single heterozygous variant was identified.

We propose a temporal comprehensive model in which two mutations in two linked genes could be players in sex determination and indirectly establish the Vitis domestication process.

In contrary, two mutations in patients suffering from TS show a Cav1.2 channel gain-of-function [26,27].

In neuroblastoma, two mutations have been observed in a series of 140 tumours.