Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
婴儿期全身性动脉钙化和假性黄色瘤可由ENPP1或ABCC6基因突变引起。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.11.020
Nitschke, Yvonne; Baujat, Geneviève; Botschen, Ulrike; Wittkampf, Tanja; du Moulin, Marcel; Stella, Jacqueline; Le Merrer, Martine; Guest, Geneviève; Lambot, Karen; Tazarourte-Pinturier, Marie-Frederique; Chassaing, Nicolas; Roche, Olivier; Feenstra, Ilse; Loechner, Karen; Deshpande, Charu; Garber, Samuel J; Chikarmane, Rashmi; Steinmann, Beat; Shahinyan, Tatevik; Martorell, Loreto; Davies, Justin; Smith, Wendy E; Kahler, Stephen G; McCulloch, Mignon; Wraige, Elizabeth; Loidi, Lourdes; Höhne, Wolfgang; Martin, Ludovic; Hadj-Rabia, Smaïl; Terkeltaub, Robert; Rutsch, Frank
