Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease

α-1,2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess polycystic livers as a common extrarenal manifestation. We performed whole exome sequencing in a female with autosomal dominant polycyst...

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Detalles Bibliográficos
Autores principales: Boerrigter, Melissa M., Duijzer, Renée, te Morsche, René H. M., 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/PMC10530326/
https://www.ncbi.nlm.nih.gov/pubmed/37761895
http://dx.doi.org/10.3390/genes14091755

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530326/
https://www.ncbi.nlm.nih.gov/pubmed/37761895
http://dx.doi.org/10.3390/genes14091755

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