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Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England

BACKGROUND/AIMS: Twenty-five members of a family from the county of Devon in England have been affected by atypical haemolytic uraemic syndrome (aHUS) associated with a CFH mutation (c.3643C>G; p.Arg1215Gly). A 65-year-old male was diagnosed with aHUS after losing a renal transplant to a thrombot...

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Detalles Bibliográficos
Autores principales: Hamilton, Alexander J., Lyons, Carl B.A., Goodship, Timothy H.J., Bingham, Coralie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806708/
https://www.ncbi.nlm.nih.gov/pubmed/24163689
http://dx.doi.org/10.1159/000354667