Results 191 to 200 of about 1,070 (210)
Some of the next articles are maybe not open access.
Splice Site Mutations Effect on the F8 mRNA Splicing
2007This highlights the usefulness of the mRNA analysis for routine diagnosis of such ambiguous cases including the presence of potential cryptic splice sites and clearly demonstrates the causality of the mutations which is also important for the genetic counseling of those families.
O. El-Maarri +5 more
openaire +1 more source
[Splice site mutations and atherosclerosis: mechanisms and prediction models].
Zeitschrift fur Kardiologie, 2001Nucleotide variants in genes of the lipid metabolism influence the risk of premature atherosclerosis. Ten percent of all single nucleotide substitutions in these genes involve splice sites. The effects of these changes on mRNA splicing and phenotypic severity, however, are not inherently obvious from the nucleotide sequence.
Y, von Kodolitsch +3 more
openaire +1 more source
A novel splice site mutation (156 + 1G→A) in the TSC2 gene
Human Mutation, 1997A, Kumar +5 more
openaire +2 more sources
A novel splice-site mutation in the LRP5 gene causing Familial Exudative Vitreoretinopathy
Gene Reports, 2020Majid Yavarian
exaly
Identification and characterization of a novel splice-site mutation in the Wilson disease gene
Journal of the Neurological Sciences, 2014Mingfan Hong
exaly