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Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families
Shih-Kai Wang et al.
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Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation
S-K Lee et al.
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Monica Prasad et al.
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Zofia von Marschall et al.
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Heng Li et al.
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S. -K. Lee et al.
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Nonsense-mediated mRNA decay (NMD) mechanisms
Saverio Brogna et al.
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A Comprehensive Analysis of Normal Variation and Disease-Causing Mutations in the Human DSPP Gene
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Sook-Kyung Lee et al.
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Xianqin Zhang et al.
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Hereditary dentin defects
J.-W. Kim et al.
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Disorders of human dentin
P. Suzanne Hart et al.
CELLS TISSUES ORGANS (2007)
Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21
ML Beattie et al.
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Dentin glycoprotein - The protein in the middle of the dentin sialophosphoprotein chimera
Y Yamakoshi et al.
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Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II
JW Kim et al.
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A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II
JW Kim et al.
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Epithelial-mesenchymal signalling regulating tooth morphogenesis
I Thesleff
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