Cargando…
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...
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: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614712/ https://www.ncbi.nlm.nih.gov/pubmed/23675084 |
Ejemplares similares
-
Secrets to mastering the WBS in real world projects
por: Buchtik, Liliana
Publicado: (2013) -
No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control
por: Frohnauer, Judith, et al.
Publicado: (2010) -
Correlation entre le wire beam scanner WBS 25 et le faisceau LIL
por: Dutriat, C
Publicado: (1989) -
Utilisation des UMA LIL et EPA et mesures sur WBS et MSH
por: Serre , C
Publicado: (1985) -
False Positive Findings on I-131 WBS and SPECT/CT in Patients with History of Thyroid Cancer: Case Series
por: Hannoush, Zeina C., et al.
Publicado: (2017)