换一批The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
第一作者：
Yaping,Qian
第一单位：
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, Ohio.
作者：
医学主题词
青少年(Adolescent);成年人(Adult);阿拉伯人(Arabs);儿童(Child);染色体倒位(Chromosome Inversion);近亲(Consanguinity);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);基因检测(Genetic Testing);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);内含子(Introns);淋巴组织细胞增多症, 嗜血细胞性(Lymphohistiocytosis, Hemophagocytic);男(雄)性(Male);膜蛋白质类(Membrane Proteins);北美洲(North America);点突变(Point Mutation);序列分析, DNA(Sequence Analysis, DNA);青年人(Young Adult)
DOI
10.1002/pbc.24955
PMID
24470399
发布时间
2022-12-07
- 浏览69
Pediatric blood & cancer
1034-40页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
