Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1994.tb03990.x/fullpdf
Reference16 articles.
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2. Regulation of elastin gene expression: evidence for functional promoter activity in the 5- flanking region of the human gene;Fazio;J Invest Dermatol,1990
3. Human elastin gene: new evidence for localization to the long arm of chromosome 7;Fazio;Am J Hum Genet,1991
4. Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastruc-tural changes of dermal elastic and collagen tissue in a family at risk;Hausser;Hum Genet,1991
5. Structure of the 3 region of the human elastin gene: great abundance of alu repetitive sequences and few coding sequences;Indik;Connect Tissue Res,1987a
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2. Pseudoxanthoma elasticum: the paradigm of ectopic mineralization disorders – diagnosis and treatment;Expert Review of Dermatology;2013-06
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