Cargando…
Exploring the genetics of nephronophthisis and Joubert Syndrome…more than monogenic cystic renal diseases?!
Autores principales: | Simms, RJ, Hynes, M, Sayer, JA |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555749/ http://dx.doi.org/10.1186/2046-2530-1-S1-P103 |
Ejemplares similares
-
Characterising a novel mouse model with a mutated ciliopathy gene (Cep290) leading to Joubert Syndrome
por: Hynes, AM, et al.
Publicado: (2012) -
Nephronophthisis: A Genetically Diverse Ciliopathy
por: Simms, Roslyn J., et al.
Publicado: (2011) -
Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis
por: Saunier, S, et al.
Publicado: (2012) -
Identification of human mutations in TRAF3IP1 in patients with nephronophthisis and retinal degeneration
por: Becker-Heck, A, et al.
Publicado: (2015) -
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing
por: Bachmann-Gagescu, R, et al.
Publicado: (2015)