High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome
在Cohen综合征患者中,通过MLPA检测到COH1基因内缺失和重复的发生率很高。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2010.59
Parri, Veronica; Katzaki, Eleni; Uliana, Vera; Scionti, Francesca; Tita, Rossella; Artuso, Rosangela; Longo, Ilaria; Boschloo, Renske; Vijzelaar, Raymon; Selicorni, Angelo; Brancati, Francesco; Dallapiccola, Bruno; Zelante, Leopoldo; Hamel, Christian P; Sarda, Pierre; Lalani, Seema R; Grasso, Rita; Buoni, Sabrina; Hayek, Joussef; Servais, Laurent; de Vries, Bert B A; Georgoudi, Nelly; Nakou, Sheena; Petersen, Michael B; Mari, Francesca; Renieri, Alessandra; Ariani, Francesca