Example sentences for: mfs
How can you use “mfs” in a sentence? Here are some example sentences to help you improve your vocabulary:
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.
A diagnosis of MFS was made at age 15 yr, based on bilateral lens dislocation (upward) and Marfanoid skeletal features.
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.
De novo deletion of three cbEGF-like domains encoded by exons 44-46 resulted in a severe form of MFS diagnosed in infancy.
For example, exon-skipping mutations in the central region of the gene, exons 24-32, cause severe phenotypes or neonatal presentations [ 8 ] . But there are exceptions, only four of the many other mutations in this region cause severe phenotypes, while one mutation predicted to lead to skipping of exon 24 was found in a patient with classic MFS [ 5 ] . In contrast, most cysteine substitutions cause classic MFS with a high frequency of lens dislocation, although some patients in our study did not meet the Ghent criteria for diagnosis of MFS [ 9 ] . Amino-acid substitutions not disrupting disulfide bonds may be associated with fibrillinopathies other than MFS, although mutations in the calcium-binding consensus sequence have been reported in individuals with classic MFS [ 5 10 11 12 ] . It is clear from the studies reported so far, that genotype-phenotype correlations are not straight-forward for FBN1 mutations.
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