成年β-半乳糖苷酶缺乏症患者的突变性质。
Nature of the mutation in adult beta-galactosidase deficient patients.
作者信息
O'Brien J S, Norden A G
出版信息
Am J Hum Genet. 1977 Mar;29(2):184-90.
Abstract
Fibroblasts from three chronically affected, beta-galactosidase deficient adults were shown to synthesize nearly normal quantities of immunologically reactive catalytically deficient beta-galactosidase, indicating that they are CRM + structural mutants.
摘要
来自三名慢性患病、β-半乳糖苷酶缺陷的成年人的成纤维细胞被证明能合成数量接近正常的具有免疫反应性但催化缺陷的β-半乳糖苷酶，这表明它们是CRM+结构突变体。
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