Sentence examples for basic defect is from inspiring English sources
The basic defect is impaired O-glycosylation of serum IgA1 that leads to mesengial deposition of abnormal IgA1 [ 1– 3].
The manifestation of the basic defect was associated with markers rs11807298 rs6684219, encompassing the CLCA4 promoter (Praw=0.0013; Praw=0.00137).
The basic defect was mapped to locus 17p12 (18 cM interval), where a bone telopeptidyl hydroxylase is located [ 41].
Assessment of the CF basic defect was carried out in vivo by nasal potential difference (NPD) measurement and ex vivo on rectal suction biopsies by intestinal current measurement (ICM).
The significance of these results for KRT8 is that modifiers of CF disease severity can be recognized through their association with the basic defect, which is less influenced by environmental factors.
The CFTR-transmitted basic defect can be used to diagnose the disease by the analysis of sweat glands, nasal or intestinal epithelium.
This result shows that these mutants are able to move and that their defect is restricted to high quality food and is not linked to a basic locomotory defect.
The defect is as telling as any.
A defect is a lack of something.
As the most frequent EHF haplotype was associated with a CF-typical basic defect phenotype, that is, high response to amiloride and the absence of CFTR-mediated residual function, we decided to define two subgroups, one of which carries two rare EHF alleles (seven patients) and one of which carries at least one frequent EHF allele (nine patients).
