CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
CEP290 基因突变常见于 Joubert 综合征相关疾病的眼肾型。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/519026
Brancati, Francesco; Barrano, Giuseppe; Silhavy, Jennifer L; Marsh, Sarah E; Travaglini, Lorena; Bielas, Stephanie L; Amorini, Maria; Zablocka, Dominika; Kayserili, Hulya; Al-Gazali, Lihadh; Bertini, Enrico; Boltshauser, Eugen; D'Hooghe, Marc; Fazzi, Elisa; Fenerci, Elif Y; Hennekam, Raoul C M; Kiss, Andrea; Lees, Melissa M; Marco, Elysa; Phadke, Shubha R; Rigoli, Luciana; Romano, Stephane; Salpietro, Carmelo D; Sherr, Elliott H; Signorini, Sabrina; Stromme, Petter; Stuart, Bernard; Sztriha, Laszlo; Viskochil, David H; Yuksel, Adnan; Dallapiccola, Bruno; Valente, Enza Maria; Gleeson, Joseph G