Words similar to fbn
Example sentences for: fbn
How can you use “fbn” in a sentence? Here are some example sentences to help you improve your vocabulary:
Thus, we have only detected two genomic deletions out of 105 unique disease-causing FBN1 mutations identified in our laboratory.
We developed a long RT-PCR approach to screen for exon-skipping and large deletion mutations in the FBN1 gene.
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.
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.
Therefore, we suspected that these normal amplification products were derived from the normal FBN1 alleles, and that the mutant alleles were not amplified by this approach because they carry gross genomic deletions.
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