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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...
Autores principales: | Boerrigter, Melissa M., Duijzer, Renée, te Morsche, René H. M., Drenth, Joost P. H. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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