岩藻糖苷贮积症的家族内变异性。
Intrafamilial variability in fucosidosis.
作者信息
Willems P J, Garcia C A, De Smedt M C, Martin-Jimenez R, Darby J K, Duenas D A, Granado-Villar D, O'Brien J S
机构信息
Department of Neurosciences, University of California, San Diego.
出版信息
Clin Genet. 1988 Jul;34(1):7-14. doi: 10.1111/j.1399-0004.1988.tb02608.x.
Abstract
Two families with five patients affected with fucosidosis are described. Within each family, both type I and type II fucosidosis are present. This suggests that environmental factors or "modifying genes" different from the fucosidase structural gene contribute to the phenotype of a fucosidosis patient.
摘要
本文描述了两个患有岩藻糖苷贮积症的家庭，共有五名患者。在每个家庭中，I型和II型岩藻糖苷贮积症都有出现。这表明，与岩藻糖苷酶结构基因不同的环境因素或“修饰基因”会影响岩藻糖苷贮积症患者的表型。
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