Cargando…

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68

Detalles Bibliográficos
Autores principales:	Littink, Karin W., Stappers, Patricia T.Y., Riemslag, Frans C.C., Talsma, Herman E., van Genderen, Maria M., Cremers, Frans P.M., Collin, Rob W.J., van den Born, L. Ingeborgh
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Correction
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5867866/ https://www.ncbi.nlm.nih.gov/pubmed/29518905 http://dx.doi.org/10.3390/genes9030145

Ejemplares similares

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome
por: Littink, Karin W., et al.
Publicado: (2018)

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)

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290
por: Roosing, Susanne, et al.
Publicado: (2017)

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy
por: Roosing, Susanne, et al.
Publicado: (2014)

A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa
por: Azam, Maleeha, et al.
Publicado: (2009)

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa
por: Khan, Muhammad Imran, et al.
Publicado: (2010)

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice
por: van Huet, Ramon A. C., et al.
Publicado: (2015)

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
por: Sangermano, Riccardo, et al.
Publicado: (2018)

A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients
por: Iarossi, Giancarlo, et al.
Publicado: (2022)

NRL plasma formulary
por: Book, David L
Publicado: (1983)

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype
por: Liu, Qin, et al.
Publicado: (2012)

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
por: Cremers, Frans P.M., et al.
Publicado: (2020)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
por: Siemiatkowska, Anna M., et al.
Publicado: (2014)

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
por: Ávila-Fernández, Almudena, et al.
Publicado: (2010)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

Identification of Nrl1 Domains Responsible for Interactions with RNA-Processing Factors and Regulation of Nrl1 Function by Phosphorylation
por: Mikolaskova, Barbora, et al.
Publicado: (2021)

Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa
por: Gao, Meng, et al.
Publicado: (2016)

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies
por: Talib, Mays, et al.
Publicado: (2021)

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290
por: Collin, Rob WJ, et al.
Publicado: (2012)

Autosomal recessive cerebellar ataxias
por: Palau, Francesc, et al.
Publicado: (2006)

Autosomal Recessive Stickler Syndrome
por: Nixon, Thomas R. W., et al.
Publicado: (2022)

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
por: Yzer, Suzanne, et al.
Publicado: (2012)

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
por: Peluso, Ivana, et al.
Publicado: (2013)

Autosomal recessive myotonia congenita in sheep
por: Moore, GA, et al.
Publicado: (1997)

Autosomal Recessive Polycystic Kidney Disease
por: Salati, Sajad Ahmad
Publicado: (2014)

Genetics of autosomal recessive intellectual disability
por: Jamra, Rami
Publicado: (2018)

Autosomal Recessive Inheritance: Cystic Fibrosis
por: Goldstein, D. Yitzchak, et al.
Publicado: (2017)

Autosomal Recessive Polycystic Kidney Disease
por: Hafer, Ashley S., et al.
Publicado: (2017)

Autosomal recessive bestrophinopathy with macular hole
por: Hirawat, Raj Shri, et al.
Publicado: (2020)

Zebrafish Models of Autosomal Recessive Ataxias
por: Quelle-Regaldie, Ana, et al.
Publicado: (2021)

Autosomal recessive osteopetrosis: mechanisms and treatments
por: Penna, Sara, et al.
Publicado: (2021)

Animal Models of Autosomal Recessive Parkinsonism
por: Bastioli, Guendalina, et al.
Publicado: (2021)

Capillary Optical Guiding Experiments for the NRL Laser Wakefield Accelerator
por: Jones, T G, et al.
Publicado: (2001)

Clinical course of cone dystrophy caused by mutations in the RPGR gene
por: Thiadens, Alberta A. H. J., et al.
Publicado: (2011)

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa
por: Li, Lin, et al.
Publicado: (2018)

Defects in the Outer Limiting Membrane Are Associated with Rosette Development in the Nrl(−/−) Retina
por: Stuck, Michael W., et al.
Publicado: (2012)

Regulation of Noncoding Transcriptome in Developing Photoreceptors by Rod Differentiation Factor NRL
por: Zelinger, Lina, et al.
Publicado: (2017)

Targeting of the NRL Pathway as a Therapeutic Strategy to Treat Retinitis Pigmentosa
por: Moore, Spencer M., et al.
Publicado: (2020)

LsNRL4 enhances photosynthesis and decreases leaf angles in lettuce
por: An, Guanghui, et al.
Publicado: (2022)

VSX2 mutations in autosomal recessive microphthalmia
por: Reis, Linda M., et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_u896bqiodkkcagjnnsb83d8a20