TY  - JOUR
AU  - Tortajada Alonso, Agustín
AU  - Pinto, Sheila
AU  - Martinez-Ara, Jorge
AU  - Lopez-Trascasa, Margarita
AU  - Sanchez-Corral, Pilar
AU  - Rodriguez de Cordoba, Santiago
PY  - 2012
DO  - 10.1038/ki.2011.291
UR  - https://hdl.handle.net/20.500.14352/114199
T2  - KIDNEY INTERNATIONAL
AB  - Mutations and polymorphisms in the gene-encoding factor H (CFH) are associated with atypical hemolytic uremic syndrome, dense deposit disease, and age-related macular degeneration. Many of these CFH genetic variations disrupt the regulatory role of...
LA  - eng
M2  - 56
KW  - Sustitución de aminoácidos
KW  - Síndrome hemolítico urémico atípico
KW  - Factor H del complemento / genética
KW  - Frecuencia genética
TI  - Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance
TY  - journal article
VL  - 81
ER  -