Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11

Cornea

Volumn 26, Issue 7, 2007, Pages 896-900

  Aldave, Anthony J ^a   Yellore, Vivek S ^a   Bourla, Nirit ^a   Momi, Rominder S ^a   Khan, M Ali ^a   Salem, Andrew K ^a   Rayner, Sylvia A ^a   Glasgow, Ben J ^a,b   Kurtz, Ira ^c  

^a JULES STEIN EYE INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UCLA MEDICAL CENTER   (United States)

Author keywords

Congenital hereditary corneal endothelial dystrophy; Corneal edema; NaBC1; SLC4A11

Indexed keywords

PROTEIN; PROTEIN SLC4A11; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; ASIAN AMERICAN; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONGENITAL CORNEA DYSTROPHY; DNA DETERMINATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRATING KERATOPLASTY; PRIORITY JOURNAL; SLIT LAMP;

ADOLESCENT; ANION TRANSPORT PROTEINS; ANTIPORTERS; ASIAN AMERICANS; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL EDEMA; EXONS; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; KERATOPLASTY, PENETRATING; MALE; MUTATION; POLYMERASE CHAIN REACTION;

EID: 34547699124     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICO.0b013e318074bb01     Document Type: Article

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