COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA
冰岛一个家族中由COPA基因复发性错义突变引起的COPA综合征
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-017-0490-8
Jensson, Brynjar O; Hansdottir, Sif; Arnadottir, Gudny A; Sulem, Gerald; Kristjansson, Ragnar P; Oddsson, Asmundur; Benonisdottir, Stefania; Jonsson, Hakon; Helgason, Agnar; Saemundsdottir, Jona; Magnusson, Olafur T; Masson, Gisli; Thorisson, Gudmundur A; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Jonsdottir, Ingileif; Petursdottir, Vigdis; Kristinsson, Jon R; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; Sulem, Patrick; Gudmundsson, Gunnar; Stefansson, Kari