Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
CEP290 (NPHP6) 突变的多效性也包括梅克尔综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/519494
Baala, Lekbir; Audollent, Sophie; Martinovic, Jéléna; Ozilou, Catherine; Babron, Marie-Claude; Sivanandamoorthy, Sivanthiny; Saunier, Sophie; Salomon, Rémi; Gonzales, Marie; Rattenberry, Eleanor; Esculpavit, Chantal; Toutain, Annick; Moraine, Claude; Parent, Philippe; Marcorelles, Pascale; Dauge, Marie-Christine; Roume, Joëlle; Le Merrer, Martine; Meiner, Vardiella; Meir, Karen; Menez, Françoise; Beaufrère, Anne-Marie; Francannet, Christine; Tantau, Julia; Sinico, Martine; Dumez, Yves; MacDonald, Fiona; Munnich, Arnold; Lyonnet, Stanislas; Gubler, Marie-Claire; Génin, Emmanuelle; Johnson, Colin A; Vekemans, Michel; Encha-Razavi, Férechté; Attié-Bitach, Tania