Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis
新型 c.G630A TCIRG1 突变引起异常剪接,从而导致一种异常轻微的常染色体隐性骨硬化症
期刊:Journal of Cellular Biochemistry
影响因子:3
doi:10.1002/jcb.28979
Ralph A Zirngibl, Andrew Wang, Yeqi Yao, Morris F Manolson, Joerg Krueger, Lucie Dupuis, Roberto Mendoza-Londono, Irina Voronov