Association signals were observed for two basic defect manifestations of perturbed ion transport: first, the manifestation of a CF-typical high response to amiloride in NPD measurement was associated with the most frequently observed EHF allele observed on a third of the chromosomes (Praw=0.0082, Pcorr=0.02).
The proband's x-rays revealed epiphyseal changes characteristic of multiple epiphyseal dysplasia associated with a collagen IX defect, with manifestations primarily restricted to the knees.
As a doctor informs readers in an introductory chapter, alcoholism is not the result of a character defect but the "manifestation of an allergy" that makes people uniquely unable to control their drinking.
The aim of this research work is to gain understanding of the interaction between multiphysics subsystems, mainly in faulty cases, to decipher the transfer path from the defect to its manifestation in stator currents.
Surface cavity defects are a major manifestation of subsurface damages leading to the decline of the machined surface quality.
However, atypical mycobacterial disease is a relatively common manifestation in defects of NF κB signalling (Dai et al, 2004).
This abnormality might represent only one manifestation of defects in osteoclast and osteoblast function regulated by the LPA1 receptor.
We scored defects in initial sensory neurite outgrowth in midstage 16 embryos (16.5 h AEL), in which unc-104 bris has been expressed for roughly 10 h to allow for the manifestation of defects.
However, given that the concomitant presence of ICR1 and ICR2 methylation defects is the epigenetic manifestation of UPD, we considered all eight of these cases (C8-C15) to have UPD.
Since visual defects are the first manifestation of juvenile NCL, and autophagic disturbances characterize the disease neuropathology (36, 55, 56), we used Cln3 Δex1- knockout mice (57, 58) to investigate whether CLN3 has a role in retinal phagosome degradation.
