Words similar to cbegf-like
Example sentences for: cbegf-like
How can you use “cbegf-like” in a sentence? Here are some example sentences to help you improve your vocabulary:
De novo deletion of three cbEGF-like domains encoded by exons 44-46 resulted in a severe form of MFS diagnosed in infancy.
Patient 2 described here also has a deletion of three contiguous cbEGF-like domains, those encoded by exons 44-46.
Of more than 200 FBN1 mutations reported, only one is a multi-exon deletion [ 7 ] . It involves deletion of exons 60-62 encoding three contiguous cbEGF-like domains [ 23 ] . This deletion co-segregated with affected status in a 3-generation family.
Deletion of one EGF-like domain due to exon skipping, especially in the region between exon 24 and 32, usually causes severe neonatal-onset MFS [ 8 24 25 ] . Similar deletions in other regions of fibrillin-1 may also result in early onset of cardiovascular symptoms [ 8 ] . Patient 1, described here, had a genomic deletion of exons 42 and 43 that results in an in-frame deletion of part of the 5th LTBP-like domain and the adjacent downstream cbEGF-like domain.