Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting

BACKGROUND: Copy number variation (CNV) has been implicated in the genetics of multiple human diseases. Spinal muscular atrophy (SMA) and 22q11.2 deletion syndrome (22q11.2DS) are two of the most common diseases which are caused by DNA copy number variations. Genetic diagnostics for these conditions...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaoqing, Wang, Bo, Zhang, Lichen, You, Guoling, Palais, Robert A., Zhou, Luming, Fu, Qihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011344/
https://www.ncbi.nlm.nih.gov/pubmed/29925309
http://dx.doi.org/10.1186/s12864-018-4833-4

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