Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. [electronic resource]
- Human molecular genetics Oct 2002
- 2559-65 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/11.21.2559 doi
Dentin--metabolism Dentin Dysplasia--etiology Endoplasmic Reticulum--metabolism Extracellular Matrix Proteins Female Humans Male Mutation Pedigree Phosphoproteins Protein Precursors--genetics Protein Sorting Signals--genetics Protein Transport--physiology Sequence Analysis, DNA Sialoglycoproteins