换一批Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
第一作者：
Shanshan,Xu
第一单位：
Department of Pediatric Endocrinology/Genetics, Xin Hua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai, 200092, China.;Department of Pediatric, The First Affiliated Hospital of Xiamen University, Xiamen, Fujian, 361003, China.
作者：
医学主题词
青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);中国(China);女(雌)性(Female);人类(Humans);婴儿(Infant);LEOPARD综合征(LEOPARD Syndrome);男(雄)性(Male);突变, 误义(Mutation, Missense);努南综合征(Noonan Syndrome);多态性, 单核苷酸(Polymorphism, Single Nucleotide);蛋白质酪氨酸磷酸酶, 非受体11型(Protein Tyrosine Phosphatase, Non-Receptor Type 11);原癌基因蛋白质B-raf(Proto-Oncogene Proteins B-raf);原癌基因蛋白质c-raf(Proto-Oncogene Proteins c-raf);回顾性研究(Retrospective Studies)
DOI
10.1186/s12920-017-0298-6
PMID
29084544
发布时间
2022-12-07
- 浏览19
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
