Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing

Journal of Dental Research

Volumn 92, Issue 3, 2013, Pages 266-271

  Wang, S K ^a   Hu, Y ^a   Simmer, J P ^a   Seymen, F ^b   Estrella, N M R P ^c   Pal, S ^a   Reid, B M ^a   Yildirim, M ^b   Bayram, M ^b   Bartlett, J D ^d   Hu, J C C ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

^c UNIVERSITY OF MICHIGAN SCHOOL OF DENTISTRY   (United States)

^d FORSYTH INSTITUTE   (United States)

Author keywords

amelogenesis imperfecta; dental enamel; human FAM83H protein; metalloproteases; serine proteases; tooth

Indexed keywords

FAM83H PROTEIN, HUMAN; KALLIKREIN; KALLIKREIN 4; MATRIX METALLOPROTEINASE 20; PROTEIN;

ADOLESCENT; ALLELE; AMELOGENESIS IMPERFECTA; ANIMAL; ARTICLE; CHILD; ENAMEL; EXOME; FEMALE; FRAMESHIFT MUTATION; GENETICS; HUMAN; MALE; METHODOLOGY; MISSENSE MUTATION; MOUSE; MOUSE MUTANT; NUCLEOTIDE SEQUENCE; PEDIGREE; STOP CODON; ULTRASTRUCTURE;

ADOLESCENT; ALLELES; AMELOGENESIS IMPERFECTA; ANIMALS; CHILD; CODON, NONSENSE; DENTAL ENAMEL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FRAMESHIFT MUTATION; HUMANS; KALLIKREINS; MALE; MATRIX METALLOPROTEINASE 20; MICE; MICE, MUTANT STRAINS; MUTATION, MISSENSE; PEDIGREE; PROTEINS;

EID: 84874097203     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034513475626     Document Type: Article

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