Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 240, doi. 10.1002/jimd.12309

By:

• Velasco, Kelly;
• St‐Louis, Johanna L.;
• Hovland, Henrikke N.;
• Thompson, Nels;
• Ottesen, Åsta;
• Choi, Man Hung;
• Pedersen, Line;
• Njølstad, Pål R.;
• Arnesen, Thomas;
• Fjeld, Karianne;
• Aukrust, Ingvild;
• Myklebust, Line M.;
• Molven, Anders

Publication type:

Article