Example sentences for: mfs
How can you use “mfs” in a sentence? Here are some example sentences to help you improve your vocabulary:
2 a-d in [ 13 ] ). There was no family history of MFS.
The MFS phenotype is the result of mutations in FBN1, a large gene composed of 65 exons encoding the 350 kD fibrillin-1 protein that is the major constituent of microfibrils in the extracellular matrix (reviewed in [ 3 ] ). To date, 201 unique FBN1 mutations have been identified, including 70 (34.
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.
A total of 60 patients were screened with this method, 55 of which met diagnostic criteria for MFS and 5 had partial manifestations.
There was no family history of MFS, both parents were deceased.