Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants
与单等位基因ALG8和ALG9致病变异相关的囊性表型的特征
期刊:Journal of the American Society of Nephrology
影响因子:9.4
doi:10.1681/ASN.0000000613
Jawaid, Tabinda; Elbarougy, Doaa E; Lavu, Sravanthi; Buia, Guillaume; Senum, Sarah R; Olinger, Eric; Yang, Hana; McDonnell, Shannon K; Bublitz, Joshua T; Ma, Jun; Audrézet, Marie-Pierre; Madsen, Charles D; Schauer, Rachel S; Baker, Tracy A; Gregory, Adriana V; Orr, Sarah E; Barroso-Gil, Miguel; Neatu, Ruxandra; Joli, Giancarlo; Dahl, Neera K; Kline, Timothy L; Gillion, Valentine; Dahan, Karin; Jouret, Francois; Perrone, Ronald D; Steinman, Theodore I; Peters, Dorien J M; Gitomer, Berenice Y; Watnick, Terry J; Coto, Eliecer; Chebib, Fouad T; Hogan, Marie C; Olson, Janet E; Larson, Nicholas B; Ars, Elisabet; Halbritter, Jan; Demoulin, Nathalie; Torres, Vicente E; Sayer, John A; Cornec-Le Gall, Emilie; Harris, Peter C