Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism

BACKGROUND: The focal form of CHI is caused by an autosomal recessive pathogenic variant affecting the paternal homologue of genes ABCC8 or KCNJ11 and a second somatic event specifically occurring in the affected islet of Langerhans. The approach of this study was to integrate the genetic changes oc...

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Detalles Bibliográficos
Autores principales: Wieland, Ilse, Schanze, Ina, Felgendreher, Ina Marianti, Barthlen, Winfried, Vogelgesang, Silke, Mohnike, Klaus, Zenker, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634566/
https://www.ncbi.nlm.nih.gov/pubmed/36339418
http://dx.doi.org/10.3389/fendo.2022.1015244

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634566/
https://www.ncbi.nlm.nih.gov/pubmed/36339418
http://dx.doi.org/10.3389/fendo.2022.1015244

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