Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis.

Suppr

超能文献

作者信息

Tümer Z, Tønnesen T, Horn N

机构信息

John F. Kennedy Institute, Glostrup, Denmark.

出版信息

J Inherit Metab Dis. 1994;17(3):267-70. doi: 10.1007/BF00711804.

DOI:10.1007/BF00711804

PMID:7807930

Abstract

摘要

相似文献

Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis.

J Inherit Metab Dis. 1994;17(3):267-70. doi: 10.1007/BF00711804.

High 64Cu uptake and retention values in two clinically atypical Menkes patients.两名临床非典型门克斯病患者的64铜摄取和保留值较高。

J Med Genet. 1991 Sep;28(9):615-8. doi: 10.1136/jmg.28.9.615.

Clinical expression of Menkes syndrome in females.

Clin Genet. 1990 Dec;38(6):452-9. doi: 10.1111/j.1399-0004.1990.tb03612.x.

Menkes' X-linked disease: prenatal diagnosis and carrier detection.

J Inherit Metab Dis. 1983;6 Suppl 1:59-62. doi: 10.1007/BF01811325.

Menkes disease: underlying genetic defect and new diagnostic possibilities.

J Inherit Metab Dis. 1998 Aug;21(5):604-12. doi: 10.1023/a:1005479307906.

Prenatal diagnosis of Menkes disease.

Prenat Diagn. 1998 Mar;18(3):287-9.

Menkes X linked disease: heterozygous phenotype in uncloned fibroblast cultures.门克斯X连锁病：未克隆的成纤维细胞培养物中的杂合子表型

J Med Genet. 1980 Aug;17(4):257-61. doi: 10.1136/jmg.17.4.257.

Postmortem Menkes diagnosis from carrier testing of female relatives.

Clin Genet. 1987 Dec;32(6):393-7. doi: 10.1111/j.1399-0004.1987.tb03156.x.

X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.

Clin Genet. 2002 Dec;62(6):440-8. doi: 10.1034/j.1399-0004.2002.620604.x.

Ectodermal manifestations in Menkes disease.门克斯病的外胚层表现。

Clin Genet. 1985 Dec;28(6):532-40. doi: 10.1111/j.1399-0004.1985.tb00422.x.

引用本文的文献

Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.翻译起始再利用导致含有两个铜结合位点的部分功能性门克斯蛋白的证据。

Am J Hum Genet. 2006 Aug;79(2):214-29. doi: 10.1086/505407. Epub 2006 Jun 5.

A comparison of the mutation spectra of Menkes disease and Wilson disease.门克斯病与威尔逊病突变谱的比较。

Hum Genet. 2004 Jan;114(2):165-72. doi: 10.1007/s00439-003-1045-y. Epub 2003 Oct 25.

Am J Hum Genet. 2000 Apr;66(4):1211-20. doi: 10.1086/302857. Epub 2000 Mar 17.

Menkes disease: underlying genetic defect and new diagnostic possibilities.

J Inherit Metab Dis. 1998 Aug;21(5):604-12. doi: 10.1023/a:1005479307906.

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

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

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.

本文引用的文献

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.

Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.门克斯病的产前和产后诊断，一种铜代谢的遗传性疾病。

J Inherit Metab Dis. 1989;12 Suppl 1:207-14. doi: 10.1007/BF01799296.

Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.

Hum Genet. 1992 Mar;88(6):668-72. doi: 10.1007/BF02265295.

Menkes disease: an X-linked neurological disorder of the copper metabolism.

Brain Pathol. 1992 Oct;2(4):351-62. doi: 10.1111/j.1750-3639.1992.tb00711.x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验