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Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 11/2018, Volume 22, Issue 11, pp. 5662 - 5669
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 08/2020, Volume 507, pp. 17 - 22
•A novel nonsense CDHR1 mutation was identified in a Chinese family with arRP.•Whole exome sequencing is an efficient method for identifying pathogenic genes... 
Autosomal recessive retinitis pigmentosa (arRP) | Cadherin-Related Family Member 1 (CDHR1) | Homozygous mutation | Exome sequencing
Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 02/2017, Volume 21, Issue 2, pp. 66 - 73
Aim: To test the utility of targeted sequencing as a method of clinical molecular testing in patients diagnosed with inherited retinal degeneration (IRD).... 
Molecular diagnosis | DNA testing | Inherited retinal degeneration | Retinitis pigmentosa | Retinal dystrophy | Targeted genetic testing | retinal dystrophy | ABCA4 | PHENOTYPES | molecular diagnosis | FAMILY | targeted genetic testing | CDHR1 | DISEASE | GENETICS & HEREDITY | retinitis pigmentosa | MUTATIONS | CONE | RETINITIS-PIGMENTOSA | PROBANDS | inherited retinal degeneration | PROSPECTS | Molecular Diagnostic Techniques - methods | Exons | Peripherins - genetics | Humans | Male | Chloride Channels - genetics | DNA Mutational Analysis - methods | Genetic Counseling | Genetic Testing - methods | Peripherins - metabolism | ATP-Binding Cassette Transporters - genetics | Bestrophins | Tissue Inhibitor of Metalloproteinase-3 - metabolism | ATP-Binding Cassette Transporters - metabolism | Female | Eye Proteins - genetics | Tissue Inhibitor of Metalloproteinase-3 - genetics | Genetic Association Studies | Retinitis Pigmentosa - genetics | Chloride Channels - metabolism | Retinal Dystrophies - diagnosis | Eye Proteins - metabolism | Heterozygote | Mutation | Retinal Dystrophies - genetics | Laboratories | Genes | Diagnostic tests | Retina | Tissue inhibitor of metalloproteinase 3 | Genetic screening | Gene sequencing | Heterogeneity | Next-generation sequencing | Peripheral blood | Genetic analysis | Degeneration | Diagnosis | Deoxyribonucleic acid--DNA | Pathogens | Nucleotide sequence | Base pairs | Patients | Pathogenicity | Genetic counseling | Damage detection | Retinal degeneration | Diagnostic systems
Journal Article
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