MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
Identifieur interne : 001310 ( Istex/Curation ); précédent : 001309; suivant : 001311MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
Auteurs : J-W Kim [États-Unis] ; J P Simmer [États-Unis] ; T C Hart ; P S Hart ; M D Ramaswami ; J D Bartlett ; J C-C Hu [États-Unis]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2005-03.
English descriptors
- KwdEn :
- Academic press, Acid sequence, Allele, Allele transmission, Amelogenesis, Amelogenesis imperfecta, American academy, Amino acids, Autosomal, Autosomal recessive, Bartlett, Defective enamel, Dental phenotype, Dental phenotypes, Dentistry, Enamel, Enamel hypoplasia, Enamel layer, Enamel maturation, Enamel proteins, Enamelysin, Enamelysin knockout, Exon, Family members, Final extension, Haplotype, Haplotype analysis, Hemopexin, Hemopexin domain, Hemopexin domains, Hypomaturation, Hypomaturation amelogenesis imperfecta, Imperfecta, Intron, Intronic regions, Klk4, MMP-20, Matrix, Michigan school, Mrna, Mutation, Mutational, Mutational analyses, Mutational hotspot, National institutes, Normal enamel, Oral biol, Pediatric, Pediatric dentistry, Phenotype, Polymerase chain reaction, Proband, Proteolytic enzymes, Recessive, Secretory stage, Thin enamel, Yamada, amelogenesis imperfecta, enamel, enamelysin, hypomaturation AI.
- Teeft :
- Academic press, Acid sequence, Allele, Allele transmission, Amelogenesis, Amelogenesis imperfecta, American academy, Amino acids, Autosomal, Autosomal recessive, Bartlett, Defective enamel, Dental phenotype, Dental phenotypes, Dentistry, Enamel, Enamel hypoplasia, Enamel layer, Enamel maturation, Enamel proteins, Enamelysin, Enamelysin knockout, Exon, Family members, Final extension, Haplotype, Haplotype analysis, Hemopexin, Hemopexin domain, Hemopexin domains, Hypomaturation, Hypomaturation amelogenesis imperfecta, Imperfecta, Intron, Intronic regions, Klk4, Matrix, Michigan school, Mrna, Mutation, Mutational, Mutational analyses, Mutational hotspot, National institutes, Normal enamel, Oral biol, Pediatric, Pediatric dentistry, Phenotype, Polymerase chain reaction, Proband, Proteolytic enzymes, Recessive, Secretory stage, Thin enamel, Yamada.
Url:
DOI: 10.1136/jmg.2004.024505
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T C Hart<affiliation><mods:affiliation>National Institutes of Health, NIDCR</mods:affiliation>
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<affiliation><mods:affiliation>National Institutes of Health, NIDCR</mods:affiliation>
<wicri:noCountry code="subField">NIDCR</wicri:noCountry>
</affiliation>
<affiliation><mods:affiliation>Harvard-Forsyth Department of Cytokine Biology, The Forsyth Institute</mods:affiliation>
<wicri:noCountry code="subField">Institute</wicri:noCountry>
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