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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Bibliografiset tiedot
Julkaisussa:Genet Mol Biol
Päätekijät: Abildinova, Gulshara, Abdrakhmanova, Zhanara, Tuchinsky, Helena, Nesher, Elimelech, Pinhasov, Albert, Raskin, Leon
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Sociedade Brasileira de Genética 2016
Aiheet:
Human and Medical Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5004823/
https://ncbi.nlm.nih.gov/pubmed/27560363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2015-0159
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