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Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the pre...

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Detalhes bibliográficos
Main Authors: Stuppia, Liborio, Antonucci, Ivana, Palka, Giandomenico, Gatta, Valentina
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Diversity Preservation International (MDPI) 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3317712/
https://ncbi.nlm.nih.gov/pubmed/22489151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms13033245
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