Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles
轻度低磷酸酯酶症大多是由严重等位基因的显性负效应或严重和中度等位基因的复合杂合性引起的。
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/1471-2350-10-51
Fauvert, Delphine; Brun-Heath, Isabelle; Lia-Baldini, Anne-Sophie; Bellazi, Linda; Taillandier, Agnès; Serre, Jean-Louis; de Mazancourt, Philippe; Mornet, Etienne