Cargando…
A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood
Mutations in CD2-associated protein (CD2AP) have been identified in patients with focal segmental glomerulosclerosis (FSGS); however, reports of CD2AP mutations remain scarce. We performed Sanger sequencing in a patient with steroid-resistant FSGS and identified a heterozygous CD2AP mutation (p.T374...
Autores principales: | Tsvetkov, Dmitry, Hohmann, Michael, Anistan, Yoland Marie, Mannaa, Marwan, Harteneck, Christian, Rudolph, Birgit, Gollasch, Maik |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Libertas Academica
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792198/ https://www.ncbi.nlm.nih.gov/pubmed/26997877 http://dx.doi.org/10.4137/CCRep.S30867 |
Ejemplares similares
-
An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis
por: Batool, Lilas, et al.
Publicado: (2023) -
The Case: Chronic Kidney Disease Unmasked by Single-Subject Research
por: Gollasch, Benjamin, et al.
Publicado: (2018) -
Late-onset Bartter syndrome type II
por: Gollasch, Benjamin, et al.
Publicado: (2017) -
Genetics of focal segmental glomerulosclerosis
por: Woroniecki, Robert P., et al.
Publicado: (2007) -
Pathophysiology of focal segmental glomerulosclerosis
por: Reidy, Kimberly, et al.
Publicado: (2007)