Association of a variant in exon 31 of the sulfonylurea receptor 1 (SUR1) gene with type 2 diabetes mellitus in French Caucasians Hum. Genet., 107 (2000), pp. 138-144 View in ScopusGoogle Scholar 25 D. Altshuler, J.N. Hirschhorn, M. Klannemark, C.M. Lindgren, M.C. Vohl, J. ...
6.3 Causal near-exon variants in ABCA4Seven variants located near exons were found to result in splicing defects that affect neighboring exons (Table 4). Variants c.1937+13T>G, c.1937+37C>G, c.3191-11T>A and c.4352+61G>A create or strengthen intronic splice sites. They thereby ...
Zhang, X.H., Chasin, L.A.: Computational Definition of Sequence Motifs Governing Constitutive Exon Splicing. Genes Dev. 18, 1241–1250 (2004) CrossRef Vingron, M., Brazma, A., Coulson, R., van Helden, J., Manke, T., Palin, K., Sand, O., Ukkonen, E.: Integrating Sequence...
This cassette consists of a single copy of the HS-40 enhancer (graded fill), the β-globin gene promoter (open thin bar) truncated to position −127, and the genomic elements of theAγ-globin gene (closed thin bar) starting with the first exon (filled boxes) and containing the large ...
[78] describe the discovery and distribution of 15 polymorphisms in the human ABCB1 gene that codes for P-gp, one of which, exon 26 (C3435T), is associated with P-gp expression levels and function in vivo. The C3435T mutation frequency is highly impacted by ethnicity, with African ...