A novel SPINK5 donor splice site variant in a child with Netherton syndrome
患有 Netherton 综合征的儿童出现新的 SPINK5 供体剪接位点变异
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.5
doi:10.1002/mgg3.1611
Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer
