Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy

American Journal of Ophthalmology

Volumn 139, Issue 1, 2005, Pages 192-193

  El Ashry, Mohamed F ^a,b,d   Abd El Aziz, Mai M ^a   Shalaby, Osama ^b   Wilkins, Simon ^a   Poopalasundaram, Subathra ^a   Cheetham, Michael ^a   Tuft, Stephen J ^c   Hardcastle, Alison J ^a   Bhattacharya, Shomi S ^a   Ebenezer, Neil D ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b TANTA UNIVERSITY HOSPITAL   (Egypt)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITALS COVENTRY AND WARWICKSHIRE NHS TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE SULFOTRANSFERASE; ISOENZYME; KERATAN SULFATE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CORNEA DYSTROPHY; DNA DETERMINATION; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE AMPLIFICATION; GENE FUNCTION; GENETIC ANALYSIS; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; CODON, NONSENSE; CORNEAL DYSTROPHIES, HEREDITARY; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; HUMANS; KERATAN SULFATE; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; SULFOTRANSFERASES;

EID: 19944428274     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2004.07.001     Document Type: Article

References (5)

1. T.O. Akama, K. Nishida, J. Nakayama Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulfotransferase gene Nat Genet 26 2000 237 241
2. N.P. Liu, S. Dew-Knight, M. Rayner Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland Mol Vis 6 2000 261 264
3. C. Abbruzzese, U. Kuhn, F. Molina, P. Rama, M. De Luca Novel mutations in the CHST6 gene causing macular corneal dystrophy Clin Genet 65 2004 120 125
4. M.F. El-Ashry, M.M. Abd El-Aziz, S. Wilkins Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy Invest Ophthalmol Vis Sci 43 2002 377 382
5. A.J. Aldave, V.S. Yellore, E.J. Thonar Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy Am J Ophthalmol 137 2004 465 473