A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency
致病性S250F错义突变导致小鼠模型出现轻度芳香族L-氨基酸脱羧酶（AADC）缺乏症。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddx326
Caine, Charlotte; Shohat, Meytal; Kim, Jeong-Ki; Nakanishi, Koki; Homma, Shunichi; Mosharov, Eugene V; Monani, Umrao R
