PRIMARY DEFECT IN COPPER TRANSPORT UNDERLIES MOTTLED MUTANTS IN MOUSE
PRIMARY DEFECT IN COPPER TRANSPORT UNDERLIES MOTTLED MUTANTS IN MOUSE
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DOI：
10.1038/249852a0
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发表时间：
1974-01-01
期刊：
影响因子：
64.8
通讯作者：
HUNT, DM
中科院分区：
文献类型：
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作者：
HUNT, DM
这里的结果表明，铜转运的一个主要缺陷是小鼠斑驳综合症的基础。因此，X连锁斑驳突变体为研究哺乳动物的铜代谢提供了一个很好的系统。他们还提供了一种遗传性人类铜缺乏的动物模型，也是X连锁的孟克斯扭曲毛发病1，2。
THE results presented here show that a primary defect in copper transport underlies the mottled syndrome in the mouse. The X-linked mottled mutants thus offer an excellent system for the study of mammalian copper metabolism. They also provide an animal model of the inherited human copper deficiency, Menkes kinky hair disease1,2, which is also X-linked.