The predictions of exon 3 skipping in specific DSPP mutations have been validated, and a cryptic splicing donor site has been identified. Our data may provide insight into the contribution of DSPP mutations in the pathogenesis and genotype-phenotype correlations of hereditary dentin defects.
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Mary MacDougall, Darrin Simmons, Xianghong Luan et al. · Journal of Biological Chemistry · 1997 · 437 citations · Full text
DSPP mutation in dentinogenesis imperfecta Shields type II
Xiaohai Zhang, Jun Zhao, Changfu Li et al. · Nature Genetics · 2001 · 368 citations