Cargando…
OR11-002 - Mutations in MVK cause non-syndromic RP
Autores principales: | Siemiatkowska, AM, Stoffels, M, Neveling, K, Simon, A, van Hagen, PM, den Hollander, AI, Cremers, FP, van den Born, LI, Collin, RW |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3952182/ http://dx.doi.org/10.1186/1546-0096-11-S1-A191 |
Ejemplares similares
-
PW02-002 - Single MVK mutation and recurrent fevers
por: Barron, K, et al.
Publicado: (2013) -
Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
por: Siemiatkowska, Anna M., et al.
Publicado: (2012) -
Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype
por: Liu, Qin, et al.
Publicado: (2012) -
OR7-002 – Pyrin 577 mutations in dominant autoinflammation
por: Stoffels, M, et al.
Publicado: (2013) -
OR5-002 – In vitro studies in Schnitzler’s syndrome
por: De Koning, HD, et al.
Publicado: (2013)