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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Prenat Diagn
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: John Wiley and Sons Inc. 2017
נושאים:
Special Topic Issue on Advances in the Diagnosis of Single Gene Disorders
גישה מקוונת: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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