Fig. 4 | International Journal of Oral Science

Fig. 4

From: Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

Fig. 4

Interval mapping and mutational analysis of AMBN. a Chromosomal location of the AMBN gene and the distribution of seven short tandem repeat (STR) markers. b Sanger sequencing result of the WT and the mutant. All the patients in this family carry a heterozygous mutation of AMBN (c.1069C > T). b This abnormal variation changes amino acid 357 of AMBN from a hydrophobic P to a hydrophilic S.

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