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Parental mosaicism is a pitfall in preimplantation genetic diagnosis of dominant disorders

PCR amplification on single cells is prone to allele drop-out (PCR failure of one allele), a cause of misdiagnosis in preimplantation genetic diagnosis (PGD). Owing to this error risk, PGD usually relies on both direct and indirect genetic analyses. When the affected partner is the sporadic case of...

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Detalhes bibliográficos
Main Authors: Steffann, Julie, Michot, Caroline, Borghese, Roxana, Baptista-Fernandes, Marcia, Monnot, Sophie, Bonnefont, Jean-Paul, Munnich, Arnold
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3992558/
https://ncbi.nlm.nih.gov/pubmed/24022303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.164
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