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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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Detalles Bibliográficos
Autores principales: Stuppia, Liborio, Antonucci, Ivana, Palka, Giandomenico, Gatta, Valentina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3317712/
https://www.ncbi.nlm.nih.gov/pubmed/22489151
http://dx.doi.org/10.3390/ijms13033245