Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy

Investigative Ophthalmology and Visual Science

Volumn 43, Issue 2, 2002, Pages 377-382

  El Ashry, Mohamed F ^a   Abd El Aziz, Mai M ^a   Wilkins, Simon ^a   Cheetham, Michael E ^a   Wilkie, Susan E ^a   Hardcastle, Alison J ^a   Halford, Stephanie ^a   Bayoumi, Ahmed Y ^a   Ficker, Linda A ^a   Tuft, Stephen ^a   Bhattacharya, Shomi S ^a   Ebenezer, Neil D ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE; CARBOHYDRATE SULFOTRANSFERASE; GLUCOSAMINE N ACETYL 6 SULFOTRANSFERASE; KERATAN SULFATE; SULFOTRANSFERASE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CORNEA DYSTROPHY; CORNEA OPACITY; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SEQUENCE ANALYSIS;

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

EID: 0036156860     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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