Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease

BACKGROUND: Mutations in podocyte and basement membrane genes are associated with a growing spectrum of glomerular disease affecting adults and children. Investigation of familial cases has helped to build understanding of both normal physiology and disease. METHODS: We investigated a consanguineous...

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Detalles Bibliográficos
Autores principales: Lennon, Rachel, Stuart, Helen M., Bierzynska, Agnieszka, Randles, Michael J., Kerr, Bronwyn, Hillman, Katherine A., Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A., Koziell, Ania, Welsh, Gavin I., Saleem, Moin A., Webb, Nicholas J. A., Woolf, Adrian S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536279/
https://www.ncbi.nlm.nih.gov/pubmed/25739341
http://dx.doi.org/10.1007/s00467-015-3067-9

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