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PLoS ONE, ISSN 1932-6203, 07/2013, Volume 8, Issue 7, pp. e67546 - e67546
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 91 - 98
Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal... 
corneal dystrophy | Harboyan | CDPD | SLC4A11 gene | Endothelium
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2012, Volume 7, Issue 10, pp. e46742 - e46742
Journal Article
Human Mutation, ISSN 1059-7794, 03/2017, Volume 38, Issue 3, pp. 279 - 288
We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH − /H + /NH 3... 
congenital hereditary endothelial dystrophy (CHED), Fuchs endothelial dystrophy (FECD), corneal dystrophy | SLC4A11, homology modeling | SLC4A11 | corneal dystrophy | Fuchs endothelial dystrophy (FECD) | ANION-EXCHANGERS | homology modeling; congenital hereditary endothelial dystrophy (CHED) | NUCLEIC-ACIDS | SWISS-MODEL | HARBOYAN SYNDROME | PROTEIN STRUCTURES | HEREDITARY ENDOTHELIAL DYSTROPHY | STRUCTURE VALIDATION | EVOLUTIONARY CONSERVATION | GENETICS & HEREDITY | TRANSPORT FUNCTION | BLOOD-CELL BAND-3 | Antiporters - chemistry | Humans | Protein Multimerization | Corneal Dystrophies, Hereditary - genetics | Structure-Activity Relationship | Anion Transport Proteins - chemistry | Biological Transport | Protein Interaction Domains and Motifs - genetics | Antiporters - genetics | HEK293 Cells | Conserved Sequence | Protein Domains | Catalysis | Amino Acid Sequence | Gene Expression | Genetic Predisposition to Disease | Models, Molecular | Antiporters - metabolism | Corneal Dystrophies, Hereditary - metabolism | Anion Transport Proteins - metabolism | Alleles | Protein Conformation | Mutation | Anion Transport Proteins - genetics | Amino Acid Substitution | Genetic disorders | Gene mutations | Analysis | Crystals | Genetic aspects | Models | Structure | Glutamine | Endothelium | Proteins | Eye diseases | Cornea | Crystal structure | Homology | Cell surface | Membrane proteins | Pathogenicity | Packing | Corneal dystrophy | Dystrophy | Protein transport | Protein structure | Index Medicus
Journal Article