Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis
进一步阐明CANT1的表型谱并证实其在蛋白聚糖合成中的作用
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22104
Nizon, Mathilde; Huber, Céline; De Leonardis, Fabio; Merrina, Rodolphe; Forlino, Antonella; Fradin, Mélanie; Tuysuz, Beyhan; Abu-Libdeh, Bassam Y; Alanay, Yasemin; Albrecht, Beate; Al-Gazali, Lihadh; Basaran, Sarenur Yilmaz; Clayton-Smith, Jill; Désir, Julie; Gill, Harinder; Greally, Marie T; Koparir, Erkan; van Maarle, Merel C; MacKay, Sara; Mortier, Geert; Morton, Jenny; Sillence, David; Vilain, Catheline; Young, Ian; Zerres, Klaus; Le Merrer, Martine; Munnich, Arnold; Le Goff, Carine; Rossi, Antonio; Cormier-Daire, Valérie