Prenatal diagnosis of Menkes disease by mutation analysis-Reference-Cited by-同舟云学术

Prenatal diagnosis of Menkes disease by mutation analysis

Published:1995 Issue:3 Volume:18 Page:364-365
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Das S.,Whitney S.,Taylor J.,Chen E.,Levinson B.,Vulpe C.,Gitschier J.,Packman S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF00710435

Reference5 articles.

1. Chelly F, Tumer Z, Tonneson T et al (1993) Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.Nature Genet 3: 14?19.

2. Das S, Levinson B, Whitney S et al (1994) Diverse mutations in patients with Menkes disease often lead to exon skipping.Am J Hum Genet 55: 883?889.

3. Mercer JRB, Livingston J, Hall B et al (1993) Isolation of a partial candidate gene for Menkes disease by positional cloning.Nature Genet 3: 20?25.

4. Tumer Z, Tonneson T, Bohmann J et al (1994) First trimester prenatal diagnosis of Menkes disease by DNA analysis.J Med Genet 31: 615?617.

5. Vulpe C, Levinson B, Whitney S et al (1993) Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.Nature Genet 3: 7?13.

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