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International Journal of Ophthalmology, ISSN 2222-3959, 10/2016, Volume 9, Issue 10, pp. 1396 - 1402
Journal Article
Journal Article
Journal Article
国际眼科杂志:英文版, ISSN 2222-3959, 2016, Volume 9, Issue 10, pp. 1396 - 1402
AIM:To investigate the relationship between high myopia [with or without complete congenital stationary night blindness(CSNB1)] and TRPM1 and NYX.METHODS: Two... 
REFRACTIVE ERROR | LOCALIZATION | COMPLETE FORM | GRM6 GENE | MECHANISMS | NYX | high myopia | TRPM1 | mutations | RP2 | MARFAN-SYNDROME | complete congenital stationary night blindness | OPHTHALMOLOGY | STICKLER-SYNDROME | LINKED RETINITIS-PIGMENTOSA
Journal Article
Journal Article
Nature genetics, ISSN 1061-4036, 2000, Volume 26, Issue 3, pp. 319 - 323
Journal Article
International Journal of Molecular Medicine, ISSN 1107-3756, 9/2012, Volume 30, Issue 3, pp. 521 - 526
The aim of this study was to identify mutations in the TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness (CSNB).... 
TRPM1 | mutation | congenital stationary night blindness | GRM6 | Chinese | CACNA1F | NYX | Congenital stationary night blindness | Mutation | MEDICINE, RESEARCH & EXPERIMENTAL | METABOTROPIC GLUTAMATE-RECEPTOR | COMPLETE FORM | NYCTALOPIN | CHANNEL | FAMILIES | MGLUR6 | ELECTRORETINOGRAM | RICH | ARRESTIN GENE | OGUCHI-DISEASE | Proteins | Signal transduction | Congenital diseases | Family medical history | Patients
Journal Article
BRITISH JOURNAL OF OPHTHALMOLOGY, ISSN 0007-1161, 01/2007, Volume 91, Issue 1, pp. 116 - 117
Journal Article
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2000, Volume 26, Issue 3, pp. 324 - 327
X-linked congenital stationary night blindness (XLCSNB) is characterized by impaired scotopic vision with associated ocular symptoms such as myopia, hyperopia,... 
SWISS-MODEL | LOCALIZATION | RP3 | GROWTH | GENETICS & HEREDITY | EXPRESSION | LOCUS | FAMILY | Sequence Deletion | Multigene Family | Retina - metabolism | Testis - metabolism | Genes | Humans | DNA, Complementary - genetics | Eye Proteins - chemistry | Molecular Sequence Data | Male | Gene Expression Profiling | Proteoglycans - chemistry | Muscle Proteins - biosynthesis | Brain - metabolism | Proteoglycans - deficiency | Kidney - metabolism | Repetitive Sequences, Amino Acid | DNA Mutational Analysis | Nerve Tissue Proteins - biosynthesis | Female | Eye Proteins - genetics | Muscles - metabolism | Night Blindness - genetics | X Chromosome - genetics | Electroretinography | Amino Acid Sequence | Leucine - analysis | Models, Molecular | Chromosome Mapping | Genetic Markers | Organ Specificity | Reverse Transcriptase Polymerase Chain Reaction | Nerve Tissue Proteins - genetics | Genetic Heterogeneity | Amino Acid Motifs | Muscle Proteins - genetics | Sequence Homology, Amino Acid | Glycosylphosphatidylinositols - metabolism | Pedigree | Proteoglycans - physiology | Protein Conformation | Eye Proteins - physiology | Night Blindness - classification | Retina - pathology | Proteoglycans - genetics | Care and treatment | Gene mutations | Night blindness | Genetic aspects | Research | Health aspects | Identification and classification | Risk factors | leucine-rich repeat protein | CSNB1 gene | NYX gene | nyctalopin | Index Medicus
Journal Article