Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro-Reference-Cited by-同舟云学术

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:2020-09-28 Issue:1 Volume:44 Page:240-252
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Velasco Kelly¹^ORCID,St‐Louis Johanna L.¹,Hovland Henrikke N.¹,Thompson Nels¹,Ottesen Åsta¹,Choi Man Hung¹²,Pedersen Line¹,Njølstad Pål R.³⁴,Arnesen Thomas⁵⁶⁷,Fjeld Karianne¹⁸,Aukrust Ingvild³⁸,Myklebust Line M.⁵⁶,Molven Anders¹²³^ORCID

Affiliation:

1. Gade Laboratory for Pathology, Department of Clinical Medicine University of Bergen Bergen Norway

2. Department of Pathology Haukeland University Hospital Bergen Norway

3. Center for Diabetes Research, Department of Clinical Science University of Bergen Bergen Norway

4. Department of Pediatrics and Adolescent Medicine Haukeland University Hospital Bergen Norway

5. Department of Biomedicine University of Bergen Bergen Norway

6. Department of Biological Sciences University of Bergen Bergen Norway

7. Department of Surgery Haukeland University Hospital Bergen Norway

8. Department of Medical Genetics Haukeland University Hospital Bergen Norway

Funder

Helse Vest Regionalt Helseføretak

Norges Forskningsråd