Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes-Reference-Cited by-同舟云学术

Update of variants identified in the pancreatic β‐cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

Published:2020-02-17 Issue:5 Volume:41 Page:884-905
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

De Franco Elisa¹^ORCID,Saint‐Martin Cécile²,Brusgaard Klaus³,Knight Johnson Amy E.⁴,Aguilar‐Bryan Lydia⁵,Bowman Pamela¹^ORCID,Arnoux Jean‐Baptiste⁶,Larsen Annette Rønholt⁷,Sanyoura May⁸,Greeley Siri Atma W.⁸^ORCID,Calzada‐León Raúl⁹,Harman Bradley¹,Houghton Jayne A. L.¹⁰^ORCID,Nishimura‐Meguro Elisa¹¹,Laver Thomas W.¹^ORCID,Ellard Sian¹¹⁰^ORCID,Gaudio Daniela⁴,Christesen Henrik Thybo⁷¹²,Bellanné‐Chantelot Christine²,Flanagan Sarah E.¹^ORCID

Affiliation:

1. Institute of Biomedical and Clinical ScienceUniversity of Exeter Medical SchoolExeter UK

2. Department of Genetics, Pitié‐Salpêtrière Hospital, AP‐HPSorbonne UniversityParis France

3. Department of Clinical GeneticsOdense University HospitalOdense Denmark

4. Department of Human Genetics, University of Chicago Genetic Services LaboratoryThe University of ChicagoChicago Illinois

5. Pacific Northwest Research InstituteSeattle Washington

6. Reference Center for Inherited Metabolic DiseasesNecker‐Enfants Malades HospitalParis France

7. Hans Christian Andersen Children's HospitalOdense University HospitalOdense Denmark

8. Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, Kovler Diabetes CenterUniversity of ChicagoChicago Illinois

9. Pediatric Endocrinology, Endocrine ServiceNational Institute for PediatricsMexico City Mexico

10. Department of Molecular GeneticsRoyal Devon and Exeter NHS Foundation TrustExeter UK

11. Department of Pediatric Endocrinology, Children's Hospital, National Medical Center XXI CenturyInstituto Mexicano del Seguro SocialMexico City Mexico

12. Odense Pancreas CenterOdense University HospitalOdense Denmark

Funder

Foundation for the National Institutes of Health

Diabetes UK

Wellcome Trust

American Diabetes Association

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23995