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We have recently shown that Cx26M34T is a pathogenic mutation implicated in hereditary deafness [17].
The lack of stability of adaptive variants is evidenced by the instability of the crucial PB2 E627K mutation, implicated in replication in humans [35] and high virulence of human H5N1 infections [36].
In contrast, knock-in mice that express NLGN3 R451C), a mutation implicated in ASD, do show behaviors analogous to the core symptoms of ASD, including impaired social behavior.
The C locus mutation implicated in albinism has been identified in the tyrosinase (TYR) gene, which codes for a critical enzyme in melanin synthesis (Imes et al. 2006).
Furthermore, a gene mutation implicated in this pathway has been associated with hyperlipidemia, hypertension, and early coronary artery disease in metabolic syndrome patients (5).
The last mutation implicated in resistance against bacteriophage SOCP in R6-SOCPR occurred in gene spr1443 (Table 2) coding for a Mur ligase homolog named MurT [ 57– 57].
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H7N9 contains mutations implicated in this switch.
An extensive inter-pair interface, conserved for the first-to-second and third-to-fourth PE interactions, contributes to a compact platform-like architecture, which is disrupted by mutations implicated in developmental diseases.
leprae and M. tuberculosis), wild-type (WT) strains or strains harboring mutations implicated in quinolone resistance, were determined by measuring drug concentrations inhibiting cell growth (MIC) and/or DNA supercoiling by DNA gyrase (IC50), or inducing 25% DNA cleavage by DNA gyrase (CC25).
At least two have inherited mutations implicated in heart disease but no signs of illness in the parents or child; Green's team plans to study whether knowing about such mutations is beneficial for the family in the long run, or results in unnecessary anxiety and tests.
Mutations implicated in HHS were identified mostly in dyskerin, and recently also in hTERT and Tin2 [24], [25], [25].
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