Ontology highlight
ABSTRACT:
SUBMITTER: Hiller M
PROVIDER: S-EPMC1380236 | biostudies-literature | 2006 Feb
REPOSITORIES: biostudies-literature
Hiller Michael M Huse Klaus K Szafranski Karol K Jahn Niels N Hampe Jochen J Schreiber Stefan S Backofen Rolf R Platzer Matthias M
American journal of human genetics 20051222 2
Aberrant or modified splicing patterns of genes are causative for many human diseases. Therefore, the identification of genetic variations that cause changes in the splicing pattern of a gene is important. Elsewhere, we described the widespread occurrence of alternative splicing at NAGNAG acceptors. Here, we report a genomewide screen for single-nucleotide polymorphisms (SNPs) that affect such tandem acceptors. From 121 SNPs identified, we extracted 64 SNPs that most likely affect alternative NA ...[more]