Identification of novel and recurrent mutations in nicotinamide nucleotide transhydrogenase (NNT) underlying familial glucocorticoid deficiency-type 4 in multiple Saudi families
在多个沙特阿拉伯家族中鉴定出导致家族性糖皮质激素缺乏症4型的烟酰胺核苷酸转氢酶（NNT）基因的新型和复发性突变
期刊:Journal of Clinical and Translational Endocrinology
影响因子:3.3
doi:10.1016/j.jcte.2026.100433
Alwan, Ibrahim Al; Ali, Raja Hussain; Umair, Muhammad; Khan, Imran Ali; Alotaibi, Nada; Aloyouni, Essra; Alwadaani, Deemah; Alayyar, Latifah; Haddad, Shahad; Alawaji, Shahad; Althenayyan, Saleh; Alfaidi, Ahmed; Algattan, Manal; Alquraishi, Ali S; Alzaben, Abdullah; Alfaraidi, Haifa; Almulhem, Beshaier; Almannai, Mohammed; Alfadhel, Majid
