门克斯病 - Suppr | 超能文献

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Menkes disease.

作者信息

Bankier A

机构信息

Murdoch Institute, Parkville, Victoria, Australia.

出版信息

J Med Genet. 1995 Mar;32(3):213-5. doi: 10.1136/jmg.32.3.213.

DOI:10.1136/jmg.32.3.213

PMID:7783172

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050320/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f505/1050320/02bf43a1fead/jmedgene00270-0055-a.jpg

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Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.从斑驳病的九个不同等位基因建立的细胞系中铜积累异常与门克斯病中发现的异常相同。

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本文引用的文献

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration.一种伴性隐性疾病，伴有生长发育迟缓、特殊毛发以及局灶性脑和小脑变性。

Pediatrics. 1962 May;29:764-79.

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.门克斯病候选基因的分离及其编码铜转运ATP酶的证据。

Nat Genet. 1993 Jan;3(1):7-13. doi: 10.1038/ng0193-7.

Isolation of a partial candidate gene for Menkes disease by positional cloning.通过定位克隆分离门克斯病的部分候选基因。

Nat Genet. 1993 Jan;3(1):20-5. doi: 10.1038/ng0193-20.

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.分离出一种门克斯病的候选基因，该基因编码一种潜在的重金属结合蛋白。

Nat Genet. 1993 Jan;3(1):14-9. doi: 10.1038/ng0193-14.

Recent developments in Menkes disease.门克斯病的最新进展。

J Inherit Metab Dis. 1993;16(4):791-9. doi: 10.1007/BF00711911.

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice.斑驳和斑点小鼠中门克斯基因的小鼠同源基因的突变。

Nat Genet. 1994 Apr;6(4):374-8. doi: 10.1038/ng0494-374.

The mottled gene is the mouse homologue of the Menkes disease gene.斑驳基因是门克斯病基因在小鼠中的同源基因。

Nat Genet. 1994 Apr;6(4):369-73. doi: 10.1038/ng0494-369.

Menkes's kinky hair syndrome. An inherited defect in copper absorption with widespread effects.门克斯卷发综合征。一种遗传性铜吸收缺陷病，具有广泛影响。

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Primary defect in copper transport underlies mottled mutants in the mouse.铜转运的原发性缺陷是小鼠斑驳突变体的基础。

Nature. 1974 Jun 28;249(460):852-4. doi: 10.1038/249852a0.

Menkes' kinky hair disease: further definition of the defect in copper transport.门克斯卷发疾病：铜转运缺陷的进一步界定

Science. 1973 Mar 16;179(4078):1140-2. doi: 10.1126/science.179.4078.1140.

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