Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)

BACKGROUND: Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.‐167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in homozygosity or compound heterozygosity with a pathogenic...

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Detalles Bibliográficos
Autores principales: Islam, Sumaya, Tekman, Mehmet, Flanagan, Sarah E., Guay‐Woodford, Lisa, Hussain, Khalid, Ellard, Sian, Kleta, Robert, Bockenhauer, Detlef, Stanescu, Horia, Iancu, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683636/
https://www.ncbi.nlm.nih.gov/pubmed/33811480
http://dx.doi.org/10.1002/mgg3.1674

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683636/
https://www.ncbi.nlm.nih.gov/pubmed/33811480
http://dx.doi.org/10.1002/mgg3.1674

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