Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Volume:Pages
13(1):212
Site
Pubmed id
30477550
Authors

Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI

DOI
10.1186/s13023-018-0954-8
Journal
Orphanet J Rare Dis
Publication Date
2018-11-26
Year
2018
N Publication Date
Validated
Y