A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

BACKGROUND: Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts. METHODS: We used genome-wid...

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Detalles Bibliográficos
Autores principales: Gale, Daniel P., Oygar, D. Deren, Lin, Fujun, Oygar, P. Derin, Khan, Nadia, Connor, Thomas M.F., Lapsley, Marta, Maxwell, Patrick H., Neild, Guy H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
CLINICAL SCIENCE
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5091614/
https://www.ncbi.nlm.nih.gov/pubmed/27190376
http://dx.doi.org/10.1093/ndt/gfw051

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