Sentence examples for mutation with severe from inspiring English sources

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

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

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].

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.

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

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).

10 Two, unaffected individuals have been described who have a CF mutation associated with severe CF and I148T but lacking 3199del6.

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

Rauch, A. et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.