Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy

Investigative Ophthalmology and Visual Science

Volumn 44, Issue 7, 2003, Pages 2949-2953

  Niel, Florence ^a   Ellies, Pierre ^b   Dighiero, Paul ^c   Soria, Jeannette ^b   Sabbagh, Celia ^b   San, Chankannira ^a   Renard, Gilles ^b   Delpech, Marc ^a   Valleix, Sophie ^a  

^a Hospital Cochin ^*  (France)

^b HÔTEL DIEU   (France)

^c POITIERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE SULFOTRANSFERASE 6; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CORNEA DYSTROPHY; ENZYME LINKED IMMUNOSORBENT ASSAY; FRAMESHIFT MUTATION; GENE MUTATION; GENOME; HOMOZYGOSITY; HUMAN; HUMAN EXPERIMENT; LEUKOCYTE; MACULAR CORNEAL DYSTROPHY; MACULAR CORNEAL DYSTROPHY TYPE 1; MACULAR CORNEAL DYSTROPHY TYPE 1A; MISSENSE MUTATION; NONSENSE MUTATION; NORMAL HUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

BASE SEQUENCE; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; HUMANS; KERATAN SULFATE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SULFOTRANSFERASES;

EID: 0038238258     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.02-0740     Document Type: Article

References (16)

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