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:
4%) exon skipping mutations, and 4 other mutations, as listed in the Human Gene Mutation Database (HGMD, http://archive.uwcm.ac.uk/uwcm/mg/search/127115.html) [ 4 ] and reported more recently [ 5 ] . Although the FBN1 gene, including three alternatively spliced 5' untranslated exons [ 6 ] extends over 235 kb of genomic DNA in chromosome band 15q21.
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.
1 http://genome.cse.ucsc.edu, no major deletions have been identified except for one report of an exon 60-62 genomic deletion [ 7 ] . Some correlations between FBN1 mutation genotypes and phenotypes are emerging.
Quantitation of allele-specific FBN1transcripts
To determine whether the low value for synthesis was due to reduced mutant transcript levels, we made use of the Rsa I restriction site polymorphism in the FBN1 3'UTR for which the patient is heterozygous.
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