Ontology highlight
ABSTRACT:
SUBMITTER: Etokebe GE
PROVIDER: S-EPMC3614712 | biostudies-literature | 2008 Sep
REPOSITORIES: biostudies-literature
Etokebe Godfrey E GE Axelsson Stefan S Svaerd Niels Henrik NH Storhaug Kari K Dembić Zlatko Z
International journal of biomedical science : IJBS 20080901 3
We have developed a dual probe quantitative PCR (qPCR) mini array enabling a more accurate analysis of the relationship between copy number variants (CNVs) and other genomic features in specific areas. We used it to map hemizygous microdeletion on human chromosome 7 around the elastin gene (ELN), which is the molecular basis of the Williams-Beuren syndrome (WBS). In two WBS patients, the haploid content of the elastin gene was ascertained previously by the fluorescence in-situ hybridization (FIS ...[more]