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At 3- and 6-month follow-up, the children were evaluated for full function, minor limitation of function and major loss of function.
Exocrine pancreatic insufficiency frequently occurs in patients with CF. It is mainly associated with "severe" CFTR mutations, where both alleles are affected by complete or major loss of function.
The variable Severity of Illness expresses the extent of physiologic decomposition or organ system loss of function and has four subclasses: (1) Minor loss of function, (2) Moderate loss of function, (3) Major loss of function, (4) Extreme loss of function.
For robustness, we performed a similar analysis using the binary variables High Severity of Illness (equal to one if severity of illness equals (3) Major loss of function or (4) Extreme loss of function) and High Risk of Mortality (equal to one if risk of mortality equals (3) Major likelihood of dying or (4) Extreme likelihood of dying) and we obtained the same pattern of results.
Furthermore, Wallis et al. (104) propose that the nonrandom distribution of substitutions, coupled with no major loss of function supports positive selection as the most probable explanation for the episodes of rapid evolution.
The All Patient Refined Disease Related Group from the National Inpatient Sample is categorized into five primary designations: no class specified, minor loss of function, moderate loss of function, major loss of function, and extreme loss of function.
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The normal phenotype of APP Thr668Ala mice suggests that this mutation does not cause a major loss-of-function of APP.
We also included the two known major loss-of-function alleles at FRI (Li et al. 2010).
However, in mammals MSTN physiological activity seems to be restricted to skeletal muscle and cardiomyocytes and major loss-of-function natural mutations have been identified, causing giant phenotypes without any other detectable side effects [ 3, 28, 49].
The resulting clinical androgen excess manifests with premature pubarche and early-onset PCOS, and of note, in both families that were characterized in detail (237, 238, 250), the heterozygous mothers carrying a major loss-of-function mutation on only one allele clinically presented with PCOS.
imp2(C) showed a strong negative genetic interaction with cdc15-140, confirmingeneticallyly a major loss of protein function in the absence of the F-BAR domain.
More suggestions(15)
predominant loss of function
substantial loss of function
tremendous loss of function
major loss of alignment
large loss of function
serious loss of function
greater loss of function
large scale loss of function
major loss of functional
greatest loss of function
major loss of momentum
major site of function
major loss of efficacy
major loss of protein
major loss of tissue
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