GENE LOCUS or SYNDROME AMINO ACID CHANGE NUCLEOTIDE CHANGE EXON ETHNICITY (Number of families) REFERENCES
DSPP DFNA39 -Dentinogenesis Imperfecta 1 P17T 49C>A exon 2 Chinese (1) Xiao 2001
    V18F 52G>T exon 3 Chinese (1) Xiao 2001
    Q45X 3658C>T exon 3 Chinese (1) Zhang 2001
      IVS3+1G>A*   Chinese (1) Xiao 2001
      *No deafness associated with this mutation