A Homozygous Nonsense Mutation and a Combination of Two Mutations of the Wilson Disease Gene in Patients with Different Lysyl Oxidase Activities in Cultured Fibroblasts
- 1 January 1997
- journal article
- case report
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 108 (1) , 35-39
- https://doi.org/10.1111/1523-1747.ep12285622
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- Cellular Copper TransportAnnual Review of Nutrition, 1995
- Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictionsHuman Molecular Genetics, 1994
- The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes geneNature Genetics, 1993
- Nonsense mutations and diminished mRNA levelsNature Genetics, 1993
- Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPaseNature Genetics, 1993
- Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinNature Genetics, 1993
- Molecular cloning of human lysyl oxidase and assignment of the gene to chromosome 5q23.3–31.2Genomics, 1991
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- Collagen and elastin changes in d-penicillamine-induced pseudoxanthoma elasticum-like skinBritish Journal of Dermatology, 1986
- “Lumpy‐Bumpy” Elastic Fibers in the Skin and Lungs of a Patient with a Penicillamine‐Induced Elastosis Perforans SerpiginosaJournal of Cutaneous Pathology, 1979