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pro vyhledávání: '"Samuel Bloor"'
Publikováno v:
Case Reports in Genetics, Vol 2017 (2017)
B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first ti
Externí odkaz:
https://doaj.org/article/85aaf58fe2f4451fb982d9ab6069209c
Publikováno v:
The FEBS journalReferences.
The UbiX/UbiD system is widespread in microbes and responsible for the reversible decarboxylation of unsaturated carboxylic acids. The UbiD enzyme catalyzes this unusual reaction using a prenylated flavin (prFMN) as cofactor, the latter formed by the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43345366b99c8ecc9b8db81d464d4fc7
https://pubmed.ncbi.nlm.nih.gov/35073609
https://pubmed.ncbi.nlm.nih.gov/35073609
Publikováno v:
Case Reports in Genetics
Case Reports in Genetics, Vol 2017 (2017)
Case Reports in Genetics, Vol 2017 (2017)
B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first ti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::644cf4242aeff5250c613540101d5c95
http://europepmc.org/articles/PMC5727645
http://europepmc.org/articles/PMC5727645