作者:
关键词
BFU-EBRCA2/FANCD1CFU-GMCsADEBESPExome Sequencing ProjectFAFANCAFanconi anemiaFanconi anemia group AHGMDICLsIGVIntegrative Genomics ViewerMLPAMMCMolecular diagnosticsMultiplex Ligation-Dependent Probe AmplificationNGSPALB2/FANCNPGDSCGESNVWESWhole exome sequencingbreast cancer 2/Fanconi anemia group D1burst forming unit-erythroidcolony forming unit-granulocyte, monocytecyclosporin Adiepoxybutaneinterstrand cross-linking agentsmitomycin Cnext generation sequencingpartner and localizer of BRCA2/Fanconi anemia group Npre-implantation genetic diagnosissingle cell gel electrophoresissingle nucleotide variationsthe Human Gene Mutation Databasewhole exome sequencing
主题词
儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);范科尼贫血(Fanconi Anemia);范可尼贫血互补群蛋白质A(Fanconi Anemia Complementation Group A Protein);基因型(Genotype);人类(Humans);男(雄)性(Male);突变(Mutation)
DOI
10.1016/j.gene.2013.08.031
PMID
23973728
发布时间
2013-09-30
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Gene
295-300页
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