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Article

The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.

Journal of the American Society of Nephrology : JASN - 1 Feb 2001

Caprioli Jessica, Bettinaglio Paola, Zipfel Peter F, Amadei Barbara, Daina Erica, Gamba Sara, Skerka Christine, Marziliano Nicola, Remuzzi Giuseppe, Noris Marina

Abstract excerpt

The aim of the present study was to clarify whether factor H mutations were involved in genetic predisposition to hemolytic uremic syndrome, by performing linkage and mutation studies in a large number of patients from those referred to the Italian Registry for Recurrent and Familial HUS/TTP. PCR and Western blot analyses were conducted to characterize the biochemical consequences of the mutations. Five mutations...

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Identifiers

PMID: 11158219
DOI: 10.1681/ASN.V122297

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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