ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
作者:
主题词
青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);DNA突变分析(DNA Mutational Analysis);DNA结合蛋白质类(DNA-Binding Proteins);Ehlers-Danlos综合征(Ehlers-Danlos Syndrome);外显子(Exons);细胞外基质(Extracellular Matrix);眼畸形(Eye Abnormalities);女(雌)性(Female);基因表达调控(Gene Expression Regulation);基因型(Genotype);人类(Humans);关节不稳定性(Joint Instability);突变(Mutation);皮肤畸形(Skin Abnormalities);转录因子(Transcription Factors)
DOI
10.1016/j.ymgme.2013.04.014
PMID
23680354
发布时间
2022-04-10
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