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pro vyhledávání: '"Michael Edigkaufer"'
Autor:
Max J. Hilz, Nicole Lyn, Felix Marczykowski, Barbara Werner, Marc Pignot, Elvira Ponce, Joseph Bender, Michael Edigkaufer, Pronabesh DasMahapatra
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Fabry disease (FD), an X-linked lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase A, resulting in lysosomal accumulation of globotriaosylceramide and other glycosphingolipids. Early detection
Externí odkaz:
https://doaj.org/article/1172e1b3428a47e5a3cf287d8baa6744
Publikováno v:
Biochimica et biophysica acta. 1305(1-2)
The 5′ flanking region of the rat PB-inducible CYP2B1 gene was isolated and the sequence from +27 to −3878 was determined. This sequence contains several putative binding sites for the liver-enriched factors HNF3 as well as an AP1, two NF-κ B an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87661b758161f788597e83052bb9217b
https://pubmed.ncbi.nlm.nih.gov/8605250
https://pubmed.ncbi.nlm.nih.gov/8605250