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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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Detalhes bibliográficos
Publicado no:BMC Genomics
Main Authors: Zhang, Xiaoqing, Wang, Bo, Zhang, Lichen, You, Guoling, Palais, Robert A., Zhou, Luming, Fu, Qihua
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6011344/
https://ncbi.nlm.nih.gov/pubmed/29925309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-018-4833-4
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