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JAMA Ophthalmology, ISSN 2168-6165, 03/2015, Volume 133, Issue 3, p. 358
Journal Article
Human Genetics, ISSN 0340-6717, 10/2019, Volume 138, Issue 10, pp. 1077 - 1090
High hyperopia is a common and severe form of refractive error. Genetic factors play important roles in the development of high hyperopia but the exact gene... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Glaucoma | Family | Genetic aspects | Genomes | Genomics | Hyperopia | Chromosome 11 | Genetic factors | Mutation | Myelin
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2018, Volume 56, Issue 5, pp. 325 - 331
Background L eber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophies. In approximately 56% of Chinese probands,... 
Leber congenital amaurosis | mutations | autosomal recessive | USP45 | DISEASE | GENETICS & HEREDITY | Immunohistochemistry | CRISPR | Enzymes | Phenotypes | Immunoglobulins | Congenital diseases | Transcription | Genes | Retina | Genomes | Population genetics | Gene frequency | Blindness | Alleles | Eye diseases | Photoreceptors | Mutation
Journal Article
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 02/2016, Volume 100, Issue 2, pp. 278 - 283
Journal Article
Molecular Vision, ISSN 1090-0535, 10/2016, Volume 22, pp. 1257 - 1266
To identify genetic mutations in three families with early onset high myopia (eoHM) limited to female members. Genomic DNA was collected from participating... 
Genes, X-Linked - genetics | Humans | Arrestins - genetics | Male | Mutation - genetics | Myopia - genetics | Haplotypes - genetics | DNA Mutational Analysis | Base Sequence | Age of Onset | Female | Heterozygote | Fundus Oculi | Index Medicus
Journal Article
American journal of medical genetics. Part A, 08/2019
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 09/2014, Volume 132, Issue 9, pp. 1076 - 1076
  Mutations in CNGA3 are the most common cause of achromatopsia and cone-rod dystrophies. To identify CNGA3 mutations in patients with cone dystrophies or... 
Mutation | Ophthalmology | Patients | Genomics | Deoxyribonucleic acid--DNA
Journal Article