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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Genomics
Prif Awduron: Zhang, Xiaoqing, Wang, Bo, Zhang, Lichen, You, Guoling, Palais, Robert A., Zhou, Luming, Fu, Qihua
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2018
Pynciau:
Research Article
Mynediad Ar-lein: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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