Dataset related to article "Molecular Studies and ex vivo Complement assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant".

Description

This work was partially supported by the Italian Ministero della Salute (RF-2016-02361720). Piras Rossella and Valoti Elisabetta are recipients of a research contract from Progetto DDD Onlus-Associazione per la lotta alla DDD (Milan, Italy) and Cassa di Sovvenzioni e Risparmio fra il Personale della Banca D'Italia (Rome, Italy). Cuccarolo Paola is recipient of a fellowship from Fondazione Aiuti per la Ricerca sulle Malattie Rare ARMR ONLUS (Bergamo, Italy).

Resources

Name Format Description Link
0 http://data.europa.eu/88u/dataset/oai-zenodo-org-5497135
0 http://data.europa.eu/88u/dataset/oai-zenodo-org-5497135
0 http://data.europa.eu/88u/dataset/oai-zenodo-org-5497135
0 http://data.europa.eu/88u/dataset/oai-zenodo-org-5497135
0 http://data.europa.eu/88u/dataset/oai-zenodo-org-5497135

Tags

  • cd46,-c.286+2t>g
  • pedigree
  • haplotype
  • c3-and-c5b-9-deposition
  • cd46-expression
  • rare-variants-(rvs)

Topics

Categories