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- W3029109086 abstract "基底细胞痣综合征是一种罕见的常染色体显性遗传病,其致病基因为PTCH,定位于9q22.3-q31,目前共报道突变112个,突变位点与临床表型无关.PTCH基因是一种肿瘤抑制基因,编码的蛋白能诱导细胞凋亡和抑制细胞增殖;PTCH突变激活Hedgehog信号通路,导致细胞无限制的增殖。" @default.
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- W3029109086 date "2006-09-15" @default.
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- W3029109086 title "Molecular Genetics Progress of Basal Cell Nevus Syndrome" @default.
- W3029109086 doi "https://doi.org/10.3760/cma.j.issn.1673-4173.2006.05.015" @default.
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