换一批
换一批Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
作者：
主题词
青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);Cockayne综合征(Cockayne Syndrome);DNA修复(DNA Repair);女(雌)性(Female);成纤维细胞(Fibroblasts);基因表达调控(Gene Expression Regulation);遗传关联研究(Genetic Association Studies);遗传变异(Genetic Variation);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);表型(Phenotype);毛发硫营养不良综合征(Trichothiodystrophy Syndromes);着色性干皮病(Xeroderma Pigmentosum);着色性干皮病蛋白质D组(Xeroderma Pigmentosum Group D Protein);青年人(Young Adult)
DOI
10.1111/exd.12166
PMID
23800062
发布时间
2013-06-26
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