A founder UMOD variant is a common cause of hereditary nephropathy in the British population

BACKGROUND: Monogenic disorders are estimated to account for 10%–12% of patients with kidney failure. We report the unexpected finding of an unusual uromodulin (UMOD) variant in multiple pedigrees within the British population and demonstrate a shared haplotype indicative of an ancestral variant. ME...

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Detalles Bibliográficos
Autores principales: Valluru, Manoj K, Chung, Noelle KX, Gilchrist, Mark, Butland, Laura, Cook, Jackie, Takou, Anna, Dixit, Abhijit, Weedon, Michael N, Ong, Albert C M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Population Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086494/
https://www.ncbi.nlm.nih.gov/pubmed/36038257
http://dx.doi.org/10.1136/jmg-2022-108704

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