扩大携带者检测范围以纳入可采取行动的X连锁疾病的理由。
A case for expanding carrier testing to include actionable X-linked disorders.
作者信息
Rope Alan F, Kauffman Tia L, Himes Pat, Amendola Laura M, Punj Sumit, Akkari Yassmine, Potter Amiee, Davis James V, Schneider Jennifer L, Reiss Jacob A, Gilmore Mari J, McMullen Carmit K, Nickerson Deborah A, Richards C Sue, Jarvik Gail P, Wilfond Benjamin S, Goddard Katrina A B
机构信息
Department of Genetics Kaiser Permanente Northwest Portland Oregon.
Center for Health Research Kaiser Permanente Northwest Portland Oregon.
出版信息
Clin Case Rep. 2018 Sep 19;6(11):2092-2095. doi: 10.1002/ccr3.1806. eCollection 2018 Nov.
A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life-saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.
一项利用全基因组序列分析进行孕前携带者筛查的研究，首次在一名女性中检测到严重的新生因子VIII突变，这对其妊娠管理及新生儿的救命干预具有重要意义，同时也对现有携带者检测模式提出了挑战。
Zotero 插件