Dubail, Johanne

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects. [electronic resource] - Nature communications 08 2018 - 3087 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2041-1723

10.1038/s41467-018-05191-8 doi


Amelogenesis Imperfecta--genetics
Animals
Body Weight
Bone Diseases, Developmental--genetics
COS Cells
Child
Child, Preschool
Chlorocebus aethiops
Disease Models, Animal
Electrophoresis
Exome
Glycoproteins--chemistry
HEK293 Cells
Humans
Infant
Mice
Mice, Knockout
Mutation
Organic Anion Transporters, Sodium-Dependent--genetics
Osteochondrodysplasias--genetics
Symporters--genetics