Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
NALCN-UNC80-UNC79离子通道复合物成分的基因变异会导致广泛的临床表型(NALCN通道病)。
期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-018-1929-5
Bramswig, Nuria C; Bertoli-Avella, Aida M; Albrecht, Beate; Al Aqeel, Aida I; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Bröhl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa M; Gorokhova, Svetlana; Héron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Kuechler, Alma; Ismail, Samira; Issa, Mahmoud Y; Marey, Isabelle; Mayer, Michèle; McEvoy-Venneri, Jennifer; Megarbane, Andre; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim M; Zaki, Maha S; Gleeson, Joseph G; Lüdecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar