Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy

The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunction of ph...

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Veröffentlicht in:	Molecular vision 2018-04, Vol.24, p.326-339
Hauptverfasser:	Wawrocka, Anna, Skorczyk-Werner, Anna, Wicher, Katarzyna, Niedziela, Zuzanna, Ploski, Rafal, Rydzanicz, Malgorzata, Sykulski, Maciej, Kociecki, Jaroslaw, Weisschuh, Nicole, Kohl, Susanne, Biskup, Saskia, Wissinger, Bernd, Krawczynski, Maciej R
Format:	Artikel
Sprache:	eng
Schlagworte:	AC133 Antigen - genetics Activating Transcription Factor 6 - genetics Adolescent Adult ATP-Binding Cassette Transporters - genetics Chromosome Disorders - diagnosis Chromosome Disorders - genetics Chromosome Disorders - pathology Cohort Studies Cone-Rod Dystrophies - diagnosis Cone-Rod Dystrophies - genetics Cone-Rod Dystrophies - pathology DNA microarrays Epithelium Eye Proteins - genetics Female Gene Expression Genes Genes, Dominant Genes, Recessive Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Heredity High-Throughput Nucleotide Sequencing Humans Male Middle Aged Mutation Next-generation sequencing Pedigree Peripherins - genetics Photoreceptors Poland Polymorphism, Genetic Population studies Retina Retinal pigment epithelium Retinal Pigment Epithelium - metabolism Retinal Pigment Epithelium - pathology Sequence Analysis, DNA
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