以为媒介的FANCD2外基删除有助于Fanconi贫血

Shaofang Shangguan1, Xinyuan Cui1, Juanjuan Li2

  • 1Department of Medical Genetics, Capital Institute of Pediatrics, Capital Center for Children's Health, Capital Medical University, Beijing, China.

PubMed
概括

诊断Fanconi贫血是一项挑战,特别是在FANCD2相关的病例中. 长读测序和RNA-seq成功识别了两个兄弟姐妹的外体序列测序错过的复杂遗传变异.