Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis
草酸转运蛋白 SLC26A6 的显性负突变与肠道高草酸尿症和肾结石有关
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2021-108256
Nicolas Cornière, R Brent Thomson, Stéphanie Thauvin, Bruno O Villoutreix, Sophie Karp, Diane W Dynia, Sarah Burlein, Lennart Brinkmann, Alaa Badreddine, Aurélie Dechaume, Mehdi Derhourhi, Emmanuelle Durand, Emmanuel Vaillant, Philippe Froguel, Régine Chambrey, Peter S Aronson, Amélie Bonnefond, Dom