Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH
纽-拉索瓦综合征是一种先天性丝氨酸代谢异常,由PHGDH基因突变引起。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.04.015
Shaheen, Ranad; Rahbeeni, Zuhair; Alhashem, Amal; Faqeih, Eissa; Zhao, Qi; Xiong, Yong; Almoisheer, Agaadir; Al-Qattan, Sarah M; Almadani, Halima A; Al-Onazi, Noufa; Al-Baqawi, Badi S; Saleh, Mohammad Ali; Alkuraya, Fowzan S