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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Detalhes bibliográficos
Publicado no:Pediatr Nephrol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4536279/
https://ncbi.nlm.nih.gov/pubmed/25739341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-015-3067-9
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