Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta

Journal of Dental Research

Volumn 92, Issue 7, 2013, Pages 598-603

  Gasse, B ^a   Karayigit, E ^b,f   Mathieu, E ^c   Jung, S ^c   Garret, A ^c   Huckert, M ^c   Morkmued, S ^c,e   Schneider, C ^b,c   Vidal, L ^d   Hemmerle J ^c   Sire, J Y ^a   Bloch Zupan, A ^b,c,f  

^a SORBONNE UNIVERSITÉ   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d UNIVERSITÉ DE HAUTE ALSACE   (France)

^e University of Khon Kaen   (Thailand)

^f INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

dental anomalies; enamel; gene; human; rare disease; scanning electron microscopy

Indexed keywords

APATITE; CALCIUM; CYTOSINE; MAGNESIUM; MATRIX METALLOPROTEINASE 20; MINERAL; MMP20 PROTEIN, HUMAN; THYMINE;

AMELOGENESIS IMPERFECTA; ARTICLE; CASE REPORT; CRYSTALLOGRAPHY; ELECTRON PROBE MICROANALYSIS; ENAMEL; ENZYMOLOGY; EXON; FEMALE; GENE; GENE DELETION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; RARE DISEASE; RECESSIVE GENE; SCANNING ELECTRON MICROSCOPY; STOP CODON; TOOTH MALFORMATION; ULTRASTRUCTURE;

DENTAL ANOMALIES; ENAMEL; GENE; HUMAN; RARE DISEASE; SCANNING ELECTRON MICROSCOPY;

AMELOGENESIS IMPERFECTA; APATITES; BASE SEQUENCE; CALCIUM; CHILD, PRESCHOOL; CODON, NONSENSE; CRYSTALLOGRAPHY; CYTOSINE; DENTAL ENAMEL; ELECTRON PROBE MICROANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MAGNESIUM; MATRIX METALLOPROTEINASE 20; MICROSCOPY, ELECTRON, SCANNING; MINERALS; MUTATION; MUTATION, MISSENSE; SEQUENCE DELETION; THYMINE;

EID: 84879136646     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034513488393     Document Type: Article

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