Article
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Pediatric nephrology (Berlin, Germany) - 1 Sept 2015
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
Abstract excerpt
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 family with a wide clinical phenotype of glomerular disease using clinical, histological, and new genetic studies....
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