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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2007-1-19
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pubmed:abstractText |
The main clinical manifestations of amelogenesis imperfecta (AI) include alteration in the quality and quantity of enamel. AI is associated with different mutations in four genes: enamelin (ENAM), amelogenin (AMGX), kallikrein (KLK4) and enamelysin (MMP-20). Seven different mutations have been identified in the enamelin gene (ENAM).
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
D
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0003-9969
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
209-17
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pubmed:meshHeading |
pubmed-meshheading:17125728-Amelogenesis Imperfecta,
pubmed-meshheading:17125728-Child,
pubmed-meshheading:17125728-DNA Mutational Analysis,
pubmed-meshheading:17125728-Dental Enamel,
pubmed-meshheading:17125728-Dental Enamel Proteins,
pubmed-meshheading:17125728-Family Health,
pubmed-meshheading:17125728-Female,
pubmed-meshheading:17125728-Genes, Dominant,
pubmed-meshheading:17125728-Humans,
pubmed-meshheading:17125728-Male,
pubmed-meshheading:17125728-Malocclusion,
pubmed-meshheading:17125728-Microscopy, Electron, Scanning,
pubmed-meshheading:17125728-Mutation,
pubmed-meshheading:17125728-Pedigree,
pubmed-meshheading:17125728-Phenotype
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pubmed:year |
2007
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pubmed:articleTitle |
Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.
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pubmed:affiliation |
Department of Paediatric and Preventive Dentistry, Faculty of Medicine, University of Ljubljana, Hrvatski trg 6, 1000 Ljubljana, Slovenia. alenka.pavlic@mf.uni-lj.si
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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