目的探讨α-I型胶原(α-type I collagen,COL1A1)基因rs1107946位点、基质金属蛋白酶(matrix metalloproteinases 3,MMP3)基因rs650108位点多态性与长期坚持运动的青年男性体能素质的关联性。方法选取374名青年男性,测量体成分,测试体能...
Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant inherited dystrophic epidermolysis bullosa (DEB). We report a family with three individuals who present blistering, sca...