科學出版品 

Proof-of-Principle Rapid Noninvasive Prenatal Diagnosis of Autosomal Recessive Founder Mutations

Author(s): Rolfs, Prof. Arndt, MD, Zeevi, David, Altarescu, Prof. Gheona, MD, Zahdeh, Fouad, PhD, Weinberg-Shukron, Ariella, Dinur, Tama, PhD, Chicco, Gaya, Herskovitz, Yair, Renbaum, Paul, Elstein, Deborah, Levy-Lahad, Ephrat, MD, Zimran, Ari, MD

Ten parental alleles in eight unrelated fetuses were diagnosed successfully based on the noninvasive method developed in this study. Read more!

本研究開發了一種非侵入性方法,用於快速、非侵入性地進行體染色體隱性遺傳創始人突變的產前診斷,並成功診斷了8個無關胎兒的10個親本等位基因。.


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