意大利遗传性果糖不耐受的分子基础：醛缩酶B基因中两个新突变的鉴定
Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
作者信息
Santamaria R, Tamasi S, Del Piano G, Sebastio G, Andria G, Borrone C, Faldella G, Izzo P, Salvatore F
机构信息
Dipartimento di Biochimica e Biotecnologie Mediche, CEINGE-Biotecnologie Avanzate, Medical School Università di Napoli Federico II, Italy.
出版信息
J Med Genet. 1996 Sep;33(9):786-8. doi: 10.1136/jmg.33.9.786.
We screened the aldolase B gene in 14 unrelated Italian patients with hereditary fructose intolerance (HFI), and found two novel disease related mutations: a single nucleotide deletion in exon 2 (delta A20) that leads to an early stop codon, and a C-->T transition in exon 8 that substitutes an Arg with a Trp residue at codon 303 (R303W).
我们对14名无亲缘关系的意大利遗传性果糖不耐受（HFI）患者的醛缩酶B基因进行了筛查，发现了两个与疾病相关的新突变：外显子2中的单个核苷酸缺失（ΔA20），导致提前出现终止密码子；外显子8中的C→T转换，在密码子303处将一个精氨酸替换为一个色氨酸残基（R303W）。
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