Novel mutation in the CHST6 gene causing macular corneal dystrophy

Clinical Genetics

Volumn 65, Issue 2, 2004, Pages 120-125

  Abbruzzese, C ^a   Kuhn, U ^a   Molina, F ^b   Rama, P ^c   De Luca, Michele ^d  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c Department of Ophthalmology ^*  (Italy)

^d The Veneto Eye Bank Foundation   (Italy)

Author keywords

Cornea; Corneal dystrophy; Gene therapy; Stem cells

Indexed keywords

N ACETYLGLUCOSAMINE 6 SULFOTRANSFERASE; SULFATE; SULFOTRANSFERASE; UNCLASSIFIED DRUG; CHONDROITIN 6 SULFOTRANSFERASE; CHONDROITIN 6-SULFOTRANSFERASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DYSTROPHY; CORNEA OPACITY; DISEASE CLASSIFICATION; ENZYME LINKED IMMUNOSORBENT ASSAY; GENE DELETION; GENE SEQUENCE; GENETIC CODE; GENETIC DISORDER; GENETIC IDENTIFICATION; GENOTYPE; HOMOZYGOSITY; HUMAN; ITALY; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN POLYMORPHISM; SEQUENCE ANALYSIS; CONGENITAL CORNEA DYSTROPHY; FEMALE; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MALE; MUTATION; PEDIGREE;

CORNEAL DYSTROPHIES, HEREDITARY; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; SULFOTRANSFERASES;

EID: 1242341218     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00191.x     Document Type: Article

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