A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum
- 1 October 2001
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 69 (4) , 749-764
- https://doi.org/10.1086/323704
Abstract
No abstract availableKeywords
This publication has 63 references indexed in Scilit:
- Homozygosity for the R1268Q Mutation in MRP6, the Pseudoxanthoma Elasticum Gene, Is Not Disease-CausingBiochemical and Biophysical Research Communications, 2000
- Allosteric Interactions between the Two Non-equivalent Nucleotide Binding Domains of Multidrug Resistance Protein MRP1Journal of Biological Chemistry, 2000
- Pseudoxanthoma Elasticum Maps to an 820-kb Region of the p13.1 Region of Chromosome 16Genomics, 1999
- ATP hydrolysis cycles and mechanism inP-glycoprotein and CFTRSeminars in Cancer Biology, 1997
- Disease-associated Mutations in the Fourth Cytoplasmic Loop of Cystic Fibrosis Transmembrane Conductance Regulator Compromise Biosynthetic Processing and Chloride Channel ActivityPublished by Elsevier ,1996
- Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticumCell Biochemistry and Function, 1996
- The Stop Mutation R553X in the CFTR Gene Results in Exon SkippingGenomics, 1994
- Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticumArchives of Dermatological Research, 1993
- Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutationHuman Molecular Genetics, 1992
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989