MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
Identifieur interne : 001310 ( Istex/Corpus ); précédent : 001309; suivant : 001311MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
Auteurs : J-W Kim ; J P Simmer ; T C Hart ; P S Hart ; M D Ramaswami ; J D Bartlett ; J C-C HuSource :
- 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
Links to Exploration step
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<note>Correspondence to:
Dr J C-C Hu
Department of Orthodontics and Pediatric Dentistry, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA; janhu@umich.edu</note>
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