title: Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2.
authors.affiliation: Third Hospital Avenue, 11, 168751, Singapore, Singapore. chai.shu.ming@singhealth.com.sg
authors.forename: Shu Ming
authors.initials: SM
authors.lastname: Chai
authors.forename: Eranga N
authors.initials: EN
authors.lastname: Vithana
authors.forename: Divya
authors.initials: D
authors.lastname: Venkataraman
authors.forename: Huda
authors.initials: H
authors.lastname: Saleh
authors.forename: Najeeb P P
authors.initials: NP
authors.lastname: Chekkalichintavida
authors.forename: Fathi
authors.initials: F
authors.lastname: al-Sayyed
authors.forename: Tin
authors.initials: T
authors.lastname: Aung
mesh_terms: D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D018912:Arabs / Q000235:genetics; D003062:Codon / Q000235:genetics; D003241:Consanguinity; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics*; D004728:Endothelium, Corneal / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011780:Qatar
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; D003062:Codon; C425809:SLC4A11 protein, human