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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2003-7-28
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pubmed:abstractText |
Macular corneal dystrophy (MCD) is an autosomal recessive disorder leading to severe visual impairment. The carbohydrate sulfotransferase 6 (CHST6) gene, which encodes the corneal N-acetylglucosamine 6-O-sulfotransferase on 16q22 has been identified as a causative gene for MCD. The purpose of this study was to identify mutations in CHST6 in Japanese patients with MCD and evaluate them by means of immunohistochemistry.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0146-0404
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
44
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3272-7
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pubmed:dateRevised |
2007-10-30
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pubmed:meshHeading |
pubmed-meshheading:12882769-Amino Acid Sequence,
pubmed-meshheading:12882769-Antibodies, Monoclonal,
pubmed-meshheading:12882769-Cornea,
pubmed-meshheading:12882769-Corneal Dystrophies, Hereditary,
pubmed-meshheading:12882769-DNA Mutational Analysis,
pubmed-meshheading:12882769-Enzyme-Linked Immunosorbent Assay,
pubmed-meshheading:12882769-Fluorescent Antibody Technique, Indirect,
pubmed-meshheading:12882769-Genetic Heterogeneity,
pubmed-meshheading:12882769-Humans,
pubmed-meshheading:12882769-Keratan Sulfate,
pubmed-meshheading:12882769-Molecular Sequence Data,
pubmed-meshheading:12882769-Mutation, Missense,
pubmed-meshheading:12882769-Open Reading Frames,
pubmed-meshheading:12882769-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:12882769-Sulfotransferases
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pubmed:year |
2003
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pubmed:articleTitle |
Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity.
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pubmed:affiliation |
Department of Ophthalmology, School of Medicine, Juntendo University, Tokyo, Japan. hasenobu@tkg.att.ne.jp
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pubmed:publicationType |
Journal Article
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