换一批
换一批Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
作者：
主题词
等位基因(Alleles);碱基序列(Base Sequence);细胞系(Cell Line);儿童(Child);儿童, 学龄前(Child, Preschool);DNA引物(DNA Primers);外显子(Exons);范科尼贫血(Fanconi Anemia);范可尼贫血互补群蛋白质D2(Fanconi Anemia Complementation Group D2 Protein);女(雌)性(Female);遗传互补测验(Genetic Complementation Test);人类(Humans);内含子(Introns);男(雄)性(Male);镶嵌现象(Mosaicism);突变(Mutation);表型(Phenotype);妊娠(Pregnancy);拟基因(Pseudogenes);RNA前体(RNA Precursors);RNA剪接(RNA Splicing)
DOI
10.1086/517616
PMID
17436244
发布时间
2021-12-03
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