Words similar to mfs

Example sentences for: mfs

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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.
The FBN1 mutation detection rate for individuals with clinically diagnosed MFS is currently about 75% when the gene is completely screened with a DNA-based PCR amplification protocol of individual exons [ 15 26 ] . Genomic deletions such as the ones reported here are not a frequent cause of human disease and would be missed by this approach.
Partial deletion of an 8-cysteine (LTBP-like) domain and loss of the downstream 6-cysteine calcium-binding (cb) epidermal growth factor (EGF)-like domain caused protein instability and classic MFS.
A diagnosis of MFS was made at age 15 yr, based on bilateral lens dislocation (upward) and Marfanoid skeletal features.
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.