Sentence examples for mutations with severe from inspiring English sources

High PSSM (>10) and low SIFT scores (<0.05) predict mutations with severe effects on protein function.

However, the association of these mutations with severe symptoms is manifested in certain populations but not in others [ 13, 14].

Genetic heterogeneity of rare mutations with severe effects is more commonly being viewed as a major component of disease (McClellan and King, 2010).

No relationship was confirmed in mutations with severe AP: mild AP mutation of CFTR in 4 (2.8 %) patients, and in the SAP mutation of CFTR in 1 (2.6 %) patient.

To assess whether deficiency of ABCA1 function influences β-cell function in humans, we therefore chose to study carriers of heterozygous ABCA1 mutations, with severe reductions in ABCA1 function but relatively normal total plasma cholesterol levels.

Despite the effect of nbr on the length of piRNAs, nbr loss did not lead to an obvious developmental defect in the ovary or a change in fertility with age, in contrast to other mutations with severe effects on piRNA biogenesis (Lin & Spradling, 1997; Cox et al., 1998; Harris & Macdonald, 2001).

Moreover, association of a novel CFH mutation with severe crescentic and necrotizing glomerulonephritis was reported [ 32].

Finally, our data do not support the association of the D222G mutation with severe disease.

By phylogenetic analysis, we identified major variants of the 2009 pdm influenza virus and critical mutations associated with severe cases, including drug-resistance mutations.

It is known that FUS mutations associated with severe forms of ALS localize in the C-terminal domain of the protein that contains the nuclear localization signal (Dormann et al., 2010).

This hypothesis is further supported by the recent finding of mutations associated with severe forms of ALS not affecting the FUS coding sequence but rather the 3′-UTR regulatory sequences (Sabatelli et al., 2013).