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Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child

Consanguinity, commonplace in many regions around the globe, is associated with an increased risk of autosomal recessive (AR) genetic disorders. Consequently, consanguineous couples undergoing preimplantation genetic diagnosis (PGD) for one Mendelian disorder may be at increased risk for a child wit...

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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: Mor-Shaked, Hagar, Rips, Jonathan, Gershon Naamat, Shiri, Reich, Avichai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2020
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940654/
https://ncbi.nlm.nih.gov/pubmed/33223529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00756-y
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