Article
Age-related penetrance of hereditary atypical hemolytic uremic syndrome.
Annals of human genetics - 1 Nov 2011
Sullivan Maren, Rybicki Lisa A, Winter Aurelia, Hoffmann Michael M, Reiermann Stefanie, Linke Hannah, Arbeiter Klaus, Patzer Ludwig, Budde Klemens, Hoppe Bernd, Zeier Martin, Lhotta Karl, Bock Andreas, Wiech Thorsten, Gaspert Ariana, Fehr Thomas, Woznowski Magdalena, Berisha Gani, Malinoc Angelica, Goek Oemer-Necmi, Eng Charis, Neumann Hartmut P H
Abstract excerpt
Hereditary atypical hemolytic uremic syndrome (aHUS), a dramatic disease frequently leading to dialysis, is associated with germline mutations of the CFH, CD46, or CFI genes. After identification of the mutation in an affected aHUS patient, single-site gene testing of relatives is the preventive...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.