VARIANT: 1834v1 Help
Entry
Name
Type
Loss of function
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
Disease
H00432 Hereditary dentine disorders
H00604 Deafness, autosomal dominant
Reference
Authors
Xiao S, Yu C, Chou X, Yuan W, Wang Y, Bu L, Fu G, Qian M, Yang J, Shi Y, Hu L, Han B, Wang Z, Huang W, Liu J, Chen Z, Zhao G, Kong X
Title
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.
Journal
Reference
Authors
Rajpar MH, Koch MJ, Davies RM, Mellody KT, Kielty CM, Dixon MJ
Title
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization.
Journal
Reference
Authors
Alhilou A, Beddis HP, Mighell AJ, Durey K
Title
Dentin dysplasia: diagnostic challenges.
Journal
Reference
Authors
Zhang X, Chen L, Liu J, Zhao Z, Qu E, Wang X, Chang W, Xu C, Wang QK, Liu M
Title
A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family.
Journal
LinkDB
All DBs