Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations

BACKGROUND. Noninvasive prenatal testing can be used to accurately detect chromosomal aneuploidies in circulating fetal DNA; however, the necessity of parental haplotype construction is a primary drawback to noninvasive prenatal diagnosis (NIPD) of monogenic disease. Family-specific haplotype assemb...

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Detalles Bibliográficos
Publicado en:J Clin Invest
Main Authors: Zeevi, David A., Altarescu, Gheona, Weinberg-Shukron, Ariella, Zahdeh, Fouad, Dinur, Tama, Chicco, Gaya, Herskovitz, Yair, Renbaum, Paul, Elstein, Deborah, Levy-Lahad, Ephrat, Rolfs, Arndt, Zimran, Ari
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2015
Assuntos:
Clinical Medicine
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4607112/
https://ncbi.nlm.nih.gov/pubmed/26426075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI79322
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