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. 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 II.

ENAM Mutations

Genomic DNA cDNA Protein Phenotype Reference
g.2382A >T c.157A >T p.K53X Local hypoplastic Mardh et al. [2002]
g.6395G >A IVS7 +1G >A; c.534 +1G >A p.A158_Q178del Generalized thin hypoplastic Rajpar et al. [2001]
g.8344delG IVS8 +1delG; c.588 +1delG p.N197fsX277 Generalized thin hypoplastic Kida et al. [2002]; Hart et al. [2003]
g.13185_13186insAG c/1258_1259insAG p.P422fsX448 Generalized thin hypoplastic Hart et al. [2004]