TY  - JOUR 
AU  - Sánchez Ares, María
AU  - García Vidal, Marina
AU  - Espinosa Estévez, Antucho
AU  - Pardo Fernández, Julio
AU  - Vazquez Martul, Eduardo
AU  - Lens Neo, Xosé M.
AU  - García González , Miguel Ángel
PY  - 2013
SN  - 0085-2538
UR  - http://hdl.handle.net/20.500.11940/1608
AB  - Focal and segmental glomerulosclerosis (FSGS) is a histological pattern that has several etiologies, including genetics. The autosomal dominant form of FSGS is a heterogenic disease caused by mutations within three known genes: alpha-actinin 4...
LA  - eng
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Charcot-Marie-Tooth Disease
KW  - Cohort Studies
KW  - Disease Progression
KW  - Exons
KW  - Female
KW  - Follow-Up Studies
KW  - Genetic Testing
KW  - Glomerulosclerosis, Focal Segmental
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nerve Tissue
KW  - Pedigree
KW  - Spain/epidemiology
TI  - A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis
DO  - 10.1038/ki.2012.325
T2  - KIDNEY INTERNATIONAL
M2  - 153
VL  - 83
ER  -