A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression
由于 CCBE1 突变纯合而导致的 Hennekam 综合征的多重家系，该突变不会阻止蛋白质表达
期刊:Journal of Clinical Immunology
影响因子:7.2
doi:10.1007/s10875-015-0225-6
Carolyn C Jackson, Lucy Best, Lazaro Lorenzo, Jean-Laurent Casanova, Jochen Wacker, Simone Bertz, Abbas Agaimy, Thomas Harrer
