bibliographicCitation |
Velasco K, St‐Louis JL, Hovland HN, Thompson N, Ottesen Å, Choi MH, Pedersen L, Njølstad PR, Arnesen T, Fjeld K, Aukrust I, Myklebust LM, Molven A. Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro. J of Inher Metab Disea. 2020 Sep 28;44(1):240–52. doi: 10.1002/jimd.12309. |