Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia

Among other applications of long-distance haplotype phasing in clinical genetics, determination of linked DNA markers as surrogate for problematic structural variants (e.g., repeat-mediated rearrangements) is essential to perform diagnosis from low-quality DNA samples. We describe a next-of-kin-inde...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Abelleyro, Miguel Martín, Marchione, Vanina Daniela, Palmitelli, Micaela, Radic, Claudia Pamela, Neme, Daniela, Larripa, Irene Beatriz, Medina-Acosta, Enrique, De Brasi, Carlos Daniel, Rossetti, Liliana Carmen
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460640/
https://ncbi.nlm.nih.gov/pubmed/30626931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0334-9
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