A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene
一种临床表现类似囊性纤维化的疾病,由AGR2基因的双等位基因变异引起。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2021-108150
Bertoli-Avella, Aida; Hotakainen, Ronja; Al Shehhi, Maryam; Urzi, Alice; Pareira, Catarina; Marais, Anett; Al Shidhani, Khoula; Aloraimi, Sumaya; Morales-Torres, Galina; Fisher, Steffen; Demuth, Laura; Moteleb Selim, Laila Abdel; Al Menabawy, Nihal; Busehail, Maryam; AlShaikh, Mohammed; Gilani, Naser; Chalabi, Dler Nooruldeen; Alharbi, Nasser S; Alfadhel, Majid; Abdelrahman, Mohammed; Venselaar, Hanka; Anjum, Nadeem; Saeed, Anjum; Alghamdi, Malak Ali; Aljaedi, Hamad; Arabi, Hisham; Karageorgou, Vasiliki; Khan, Suliman; Hajjari, Zahra; Radefeldt, Mandy; Al-Ali, Ruslan; Tripolszki, Kornelia; Jamhawi, Amer; Paknia, Omid; Cozma, Claudia; Cheema, Huma; Ameziane, Najim; Al-Muhsen, Saleh; Bauer, Peter