Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum

Protein-truncating variants in α-1,3-glucosyltransferase (ALG8) are a risk factor for a mild cystic kidney disease phenotype. The association between these variants and liver cysts is limited. We aim to identify pathogenic ALG8 variants in our cohort of autosomal dominant polycystic liver disease (A...

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Detalles Bibliográficos
Autores principales: Boerrigter, Melissa M., te Morsche, René H. M., Venselaar, Hanka, Pastoors, Nikki, Geerts, Anja M., Hoorens, Anne, Drenth, Joost P. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454741/
https://www.ncbi.nlm.nih.gov/pubmed/37628703
http://dx.doi.org/10.3390/genes14081652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454741/
https://www.ncbi.nlm.nih.gov/pubmed/37628703
http://dx.doi.org/10.3390/genes14081652

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