机译:在一名患有神经垂体尿崩症的日本人中发现了一种新的加压素杂合错义突变。
Department of Endocrinology, Kobe City General Hospital, 4-6, Minatojimanakamachi, Hyogo, 650-0046 Japan. hiromasa_kobayashi@medical.general.hp.city.kobe.jp;
cc.edu;
Argipressin; Diabetes Insipidus; Neurogenic; Heterozygote; Mutation; Missense; 精氨酸升压素; 杂合子; 突变; 误义;