Fast detection of deletion breakpoints using quantitative PCR

Fast detection of deletion breakpoints using quantitative PCR

Abstract 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...

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Bibliographic Details
Main Authors: Gulshara Abildinova, Zhanara Abdrakhmanova, Helena Tuchinsky, Elimelech Nesher, Albert Pinhasov, Leon Raskin
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2016-01-01
Series:Genetics and Molecular Biology
Subjects:
deletion boundaries
deletion breakpoints
DMD gene
Duchenne and Becker muscular dystrophies
hemizygous deletions
heterozygous deletions
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016005004101&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016005004101&lng=en&tlng=en

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