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Neurology, ISSN 0028-3878, 03/2013, Volume 80, Issue 11, pp. 1062 - 1064
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, pp. e0132529 - e0132529
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1040 - 1045
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2014, Volume 9, Issue 8, pp. e104000 - e104000
Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment that usually present at an early age with or... 
DOMAIN | COMPLEX | ANTERIOR SEGMENT DYSGENESIS | PROTEIN | CONGENITAL CATARACT | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | N-TERMINUS | LOCUS | STATIONARY NIGHT BLINDNESS | Alternative Splicing | Exons | Humans | Cataract - pathology | Molecular Sequence Data | Male | Green Fluorescent Proteins - genetics | Mutation, Missense | Lens, Crystalline - pathology | Exome | Codon | Base Sequence | HEK293 Cells | Adult | Female | Genes, Reporter | Genetic Linkage | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Gene Expression | Genome-Wide Association Study | Lens, Crystalline - metabolism | Glaucoma - complications | Glaucoma - congenital | Cataract - complications | Cataract - congenital | Pedigree | TRPM Cation Channels - genetics | Cataract - genetics | Chromosomes, Human, Pair 9 - chemistry | Glaucoma - pathology | Glaucoma - genetics | Amino Acid Substitution | Glaucoma | Cataract | Genetic aspects | Genomics | Cataracts | Alternative splicing | Transcription | Genes | Genomes | Substitutes | Proteins | Transient receptor potential proteins | Missense mutation | Coding | Chromosomes | Age | Target detection | Recombinant | Linkage analysis | Isoleucine | Visually handicapped people | Congenital diseases | Splicing | Abnormalities | Methionine | Loci | Medicine | Visual impairment | Chromosome 9 | Blindness | Cations | Mutation | Codons | Eye lens | Index Medicus
Journal Article
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 09/2016, Volume 134, Issue 9, p. 1049
  Importance: A multiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever, and developmental delay with an... 
Cataracts | Genotype & phenotype | Eye diseases | Mutation | Ophthalmology
Journal Article
Journal Article