门克斯病：最新进展与新视角 - Suppr

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Menkes disease: recent advances and new aspects.

作者信息

Tümer Z, Horn N

机构信息

John F Kennedy Institute, Glostrup, Denmark.

出版信息

J Med Genet. 1997 Apr;34(4):265-74. doi: 10.1136/jmg.34.4.265.

DOI:10.1136/jmg.34.4.265

PMID:9138147

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050910/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd0b/1050910/8b1d16fa6ac0/jmedgene00246-0002-a.jpg

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Menkes disease: recent advances and new aspects.门克斯病：最新进展与新视角

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本文引用的文献

Electrophoretic variation for x-chromosome-linked phosphoglycerate kinase (pgk-1) in the mouse.X 染色体连锁磷酸甘油酸激酶（pgk-1）在小鼠中的电泳变异。

Genetics. 1977 Oct;87(2):319-25. doi: 10.1093/genetics/87.2.319.

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.

Identification of point mutations in 41 unrelated patients affected with Menkes disease.对41名患门克斯病的非亲属患者的点突变进行鉴定。

Am J Hum Genet. 1997 Jan;60(1):63-71.

Early copper-histidine treatment for Menkes disease.早期铜-组氨酸治疗门克斯病。

Nat Genet. 1996 Jan;12(1):11-3. doi: 10.1038/ng0196-11.

Cellular copper transport.细胞铜转运

Annu Rev Nutr. 1995;15:293-322. doi: 10.1146/annurev.nu.15.070195.001453.

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.

Are X-linked cutis laxa and Menkes disease allelic?

Nat Genet. 1993 Jan;3(1):6. doi: 10.1038/ng0193-6.

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.

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.门克斯病的细胞遗传学研究：对X连锁疾病中染色体重排检测的启示

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