Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location
about
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP.Functional splicing assay of DSPP mutations in hereditary dentin defects.
P2860
Q35697998-1C640DA4-C340-4F12-B17A-B322798A64F7Q36637825-D3836DBC-740B-43F0-82E3-3093BF4A8E57Q36665293-129D9FB6-9894-4CFE-8BA7-8E5E3DA6A7E8Q38239448-FA1A24DD-AB48-4140-A8AE-7476C8B8BBE3Q40428302-B645F0CD-F36C-44AC-A43A-E56A2066F3EAQ42027856-7215C004-5F69-4397-A73A-1508EC4B8BD0Q46379662-21B8AE93-4F09-4292-8602-10126A28B909
P2860
Frameshift mutations in dentin phosphoprotein and dependence of dentin disease phenotype on mutation location
description
im April 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 April 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2011
@uk
name
Frameshift mutations in dentin ...... phenotype on mutation location
@en
Frameshift mutations in dentin ...... phenotype on mutation location
@nl
type
label
Frameshift mutations in dentin ...... phenotype on mutation location
@en
Frameshift mutations in dentin ...... phenotype on mutation location
@nl
prefLabel
Frameshift mutations in dentin ...... phenotype on mutation location
@en
Frameshift mutations in dentin ...... phenotype on mutation location
@nl
P2093
P2860
P356
P1476
Frameshift mutations in dentin ...... phenotype on mutation location
@en
P2093
Heidi Holappa
Jaap Veerkamp
Janna Waltimo-Siren
Lisa Papagiannoulis-Lascarides
Pekka Nieminen
Pirjo-Liisa Lukinmaa
Päivi Ollila
Sara Karjalainen
Satu Alaluusua
Sirpa Arte
P2860
P304
P356
10.1002/JBMR.276
P577
2011-04-01T00:00:00Z