title: A novel nonsense mutation of the SLC4A11 gene in a Korean patient with autosomal recessive congenital hereditary endothelial dystrophy.
authors.forename: Shin Hae
authors.initials: SH
authors.lastname: Park
authors.forename: Hyun Jin
authors.initials: HJ
authors.lastname: Jeong
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.forename: Man Soo
authors.initials: MS
authors.lastname: Kim
mesh_terms: D000328:Adult; D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D018389:Codon, Nonsense; D003317:Corneal Dystrophies, Hereditary; D063171:Corneal Pachymetry; D004252:DNA Mutational Analysis; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D056910:Republic of Korea
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; D018389:Codon, Nonsense; C425809:SLC4A11 protein, human