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A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

BACKGROUND: Copy number variations (CNVs) of chromosomal region 22q11.2 are associated with a subset of patients with congenital heart disease (CHD). Accurate and efficient detection of CNV is important for genetic analysis of CHD. The aim of the study was to introduce a novel approach named CNVplex...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaoqing, Xu, Yuejuan, Liu, Deyuan, Geng, Juan, Chen, Sun, Jiang, Zhengwen, Fu, Qihua, Sun, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424574/
https://www.ncbi.nlm.nih.gov/pubmed/25952753
http://dx.doi.org/10.1186/s12864-015-1590-5