Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2.
Chai
Shu Ming
SM
Third Hospital Avenue, 11, 168751, Singapore, Singapore. chai.shu.ming@singhealth.com.sg
Vithana
Eranga N
EN
Venkataraman
Divya
D
Saleh
Huda
H
Chekkalichintavida
Najeeb P P
NP
al-Sayyed
Fathi
F
Aung
Tin
T
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
D027321:Anion Transport Proteins; D017920:Antiporters; D003062:Codon; C425809:SLC4A11 protein, human