Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

OBJECTIVE: Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We describe our novel strategy of exome sequencing parenta...

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Bibliografski detalji
Izdano u:Prenat Diagn
Glavni autori: Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2017
Teme:
Special Topic Issue on Advances in the Diagnosis of Single Gene Disorders
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5836855/
https://ncbi.nlm.nih.gov/pubmed/29096039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pd.5175
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