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The specific effects on the proteome observed here can be attributed to the basic defect in NBS, defective DNA repair [14].
However, new therapies modulating defective CFTR, the basic defect underlying CF, have started to hit the clinic and several others are in trial or in development.
Embryologically, there are some theories for its pathogenesis, including primary mesenchymal abnormality, defective closure of the embryonic fissure, and basic defect of mesoderm combined with dynamic disturbance between the relative growth of mesoderm and ectoderm.
Al-Fārābī's theologico-political writings helped point out this basic defect of Ismāʿīlī theology.
Kolbe, E. W. et al. CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.
Ritzka, M. et al. The CLCA gene locus as a modulator of the gastrointestinal basic defect in cystic fibrosis.
For Plato, democracy suffered from the basic defect of putting decision-making in the hands of people who were not competent to decide.
Results are reported of first principles VASP supercell calculations of basic defect migration in UN nuclear fuels.
This treatment starts from basic defect chemistry and the equations for flux of oxygen ions and protons.
In doing so, they provided an entry point to understanding the basic defect that fuels a complex disease affecting multiple organs and organ systems.
Understanding how CFTR mutations translate to disturbed synthesis or function of the CFTR protein has opened the way to 'personalized' treatments to correct the basic defect.
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