title: Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy.
authors.affiliation: Faculty of Medicine, Department of Ophthalmology, Chulalongkorn University, Bangkok, Thailand Center of Excellence for Cornea and Limbal Stem Cell Transplantation, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: Vilavun
authors.initials: V
authors.lastname: Puangsricharern
authors.affiliation: Faculty of Science, Department of Botany, Chulalongkorn University, Bangkok, Thailand.
authors.forename: Patra
authors.initials: P
authors.lastname: Yeetong
authors.affiliation: Faculty of Medicine, Department of Ophthalmology, Chulalongkorn University, Bangkok, Thailand.
authors.forename: Chonthicha
authors.initials: C
authors.lastname: Charumalai
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Center of Excellence for Medical Genetics, Chulalongkorn University, Bangkok, Thailand Center of Excellence for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: Kanya
authors.initials: K
authors.lastname: Suphapeetiporn
authors.affiliation: Faculty of Medicine, Department of Pediatrics, Center of Excellence for Medical Genetics, Chulalongkorn University, Bangkok, Thailand Center of Excellence for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
mesh_terms: D000293:Adolescent; D027321:Anion Transport Proteins / Q000235:genetics*; D017920:Antiporters / Q000235:genetics*; D002648:Child; D003317:Corneal Dystrophies, Hereditary; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017384:Sequence Deletion / Q000235:genetics*; D035781:Siblings; D055815:Young Adult
chemical_list: D027321:Anion Transport Proteins; D017920:Antiporters; C425809:SLC4A11 protein, human
keywords: Cornea; Genetics