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Article

Premature Stop Codon in <i>MMP20</i> Causing Amelogenesis Imperfecta

1 Jan 2008

Abstract excerpt

Proteolytic enzymes are necessary for the mineralization of dental enamel during development, and mutations in the kallikrein 4 (KLK4) and enamelysin (MMP20) genes cause autosomal-recessive amelogenesis imperfecta (ARAI). So far, only one KLK4 and two MMP20 mutations have been reported. We have identified an ARAI-causing point mutation (c.102G>A, g.102G>A, and p.W34X) in exon 1 of MMP20 in a proband with...

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Identifiers

PMID: 18096894
DOI: 10.1177/154405910808700109

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