title: DSPP mutation in dentinogenesis imperfecta Shields type II.
abstract: We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of their teeth, with obliterated pulp chambers.
authors.affiliation: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Zhao
authors.forename: C
authors.initials: C
authors.lastname: Li
authors.forename: S
authors.initials: S
authors.lastname: Gao
authors.forename: C
authors.initials: C
authors.lastname: Qiu
authors.forename: P
authors.initials: P
authors.lastname: Liu
authors.forename: G
authors.initials: G
authors.lastname: Wu
authors.forename: B
authors.initials: B
authors.lastname: Qiang
authors.forename: W H
authors.initials: WH
authors.lastname: Lo
authors.forename: Y
authors.initials: Y
authors.lastname: Shen
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D003811:Dentinogenesis Imperfecta / Q000145:classification / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D011498:Protein Precursors / Q000235:genetics*; D012795:Sialoglycoproteins / Q000235:genetics*; D000099311:Dentin Sialophosphoprotein
chemical_list: D016326:Extracellular Matrix Proteins; D010750:Phosphoproteins; D011498:Protein Precursors; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein