Suggestions(2)
Exact(2)
The recessive nature with reduced expression of FBN1 in one of the families suggests a threshold model combined with a mild functional defect of this specific mutation.
The observation of only one major clinical sign in one of the heterozygotes (dural ectasia in II-7, Figure 1) and no major clinical signs in 12 other heterozygotes could be explained by sufficient gene expression with only a mild functional defect of the mutant allele product.
Similar(58)
Nerves from these animals exhibited mild morphological and functional defects and behavioral tests revealed muscle weakness and hypersensitivity to mechanical nociceptive stimuli.
Therefore, the defect of hair follicle development is primarily due to the defect of TAK1 signaling during embryogenesis, rather than the functional defect of keratinocytes.
The patient with the c.436C>T had mild functional disability.
Thus, perturbations should yield a severe functional defect.
Here, we investigated the functional defect of APCs.
An increase in mild functional decline was more prevalent than severe functional decline.
These results indicated that the defect in the MIA pathway may be due to a functional defect of Erv1 mutants.
However, in the same manuscript cilia in the limbs and neural tube revealed mild structural and no functional defects.
Designed by Brad Cloepfil of Allied Works Architecture, the renovation remedies the annoying functional defects that had plagued the building for decades.
Write better and faster with AI suggestions while staying true to your unique style.
Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com