影响铜代谢的人类和动物突变。
Mutations in humans and animals which affect copper metabolism.
作者信息
Camakaris J, Phillips M, Danks D M, Brown R, Stevenson T
出版信息
J Inherit Metab Dis. 1983;6 Suppl 1:44-50. doi: 10.1007/BF01811323.
PMID:6137594
Abstract
Various inherited disorders of copper metabolism in man and animals are reviewed. Emphasis is placed on the use of cultured cells from mutants to determine the primary molecular defects and to acquire basic knowledge of normal copper metabolism. This allows better diagnostic tests and possible treatment of the disorders. Menkes' disease in humans and mottled mouse mutants are discussed in detail, as they illustrate these approaches.
摘要
本文综述了人类和动物中各种遗传性铜代谢紊乱疾病。重点介绍了利用突变体的培养细胞来确定主要分子缺陷，并获取正常铜代谢的基础知识。这有助于更好地进行诊断测试，并可能对这些疾病进行治疗。文中详细讨论了人类的门克斯病和斑驳小鼠突变体，因为它们例证了这些方法。
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