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Fast detection of deletion breakpoints using quantitative PCR

The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplifica...

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Detalles Bibliográficos
Autores principales:	Abildinova, Gulshara, Abdrakhmanova, Zhanara, Tuchinsky, Helena, Nesher, Elimelech, Pinhasov, Albert, Raskin, Leon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2016
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004823/ https://www.ncbi.nlm.nih.gov/pubmed/27560363 http://dx.doi.org/10.1590/1678-4685-GMB-2015-0159

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