Výsledky vyhledávání - "Svaerd, Niels Henrik"

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

Autor: Etokebe, Godfrey, Axellson, Stefan, Svaerd, Niels Henrik, Storhaug, Kari, Dembic, Zlatko

Publikováno v: International Journal of Biomedical Science : IJBS

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 h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::df87ab6a6e713f1dd2b3c9e39ab85755
http://europepmc.org/articles/PMC3614712

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