First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function
SOST 基因中首次出现错义突变,导致硬化蛋白功能丧失,从而引发硬化性骨化病
期刊:Human Mutation
影响因子:3.3
doi:10.1002/humu.21274
Elke Piters, Cavit Culha, Martiene Moester, Rutger Van Bezooijen, Dirk Adriaensen, Thomas Mueller, Stella Weidauer, Karen Jennes, Fenna de Freitas, Clemens Löwik, Jean-Pierre Timmermans, Wim Van Hul, Socrates Papapoulos