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浏览/检索结果: 共1条，第1-1条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing 期刊论文 MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 卷号: 6, 期号: 5, 页码: 739-748 作者:  Yang, Junli;  Wang, Qiong;  Zhuo, Qingcui;  Tian, Huiling;  Li, Wen 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 glycosylphosphatidylinositol  GPI  IGD  inherited GPI deficiency  MCAHS2  multiple congenital anomalies hypotonia-seizures syndrome 2  phosphatidylinositol glycan anchor biosynthesis class A  PIGA  PIGA  deficiency  splicing defect  WES  whole-exome sequencing