Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect

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), wh...

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Detalles Bibliográficos
Autores principales: Etokebe, Godfrey E., Axelsson, Stefan, Svaerd, Niels Henrik, Storhaug, Kari, Dembić, Zlatko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Master Publishing Group 2008
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614712/
https://www.ncbi.nlm.nih.gov/pubmed/23675084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614712/
https://www.ncbi.nlm.nih.gov/pubmed/23675084

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