. Author manuscript; available in PMC: 2007 Apr 4.

Published in final edited form as: Am J Med Genet A. 2006 Dec 1;140(23):2547–2555. doi: 10.1002/ajmg.a.31358

TABLE III.

MMP20 and KLK4 Mutations

Genomic DNA	cDNA	Protein	Phenotype	Reference
MMP20 Mutations
g.30561A >T	c.954-2A >T or c.IVS6-2A-T	p.I319Fs338X or p.I319X	Pigmented hypomaturation decreased mineral	Kim et al. [2005]
g.16250T >A	c.678T >A	p.H226Q	Hypomaturation	Ozdemir et al. [2005]
KLK4 Mutations
g.2142G >A	c.458G >A	p.W153X	Pigmented hypomaturation decreased mineral	Hart et al. [2004]