Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits.
复制标题
三名芬兰患者中导致天冬氨葡萄糖胺尿的突变特征。
DOI：
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发表时间：
1991
期刊：
影响因子：
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通讯作者：
AronsonJr,NN
中科院分区：
文献类型：
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作者：
Fisher,KJ;AronsonJr,NN
