Hennies, Hans Christian

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. [electronic resource] - Nature genetics Dec 2008 - 1410-2 p. digital

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

1546-1718

10.1038/ng.252 doi


Bone Diseases--genetics
Carrier Proteins--genetics
Chromosomes, Human, Pair 1--genetics
Female
Golgi Matrix Proteins
Humans
Infant
Male
Pedigree
Skin Diseases, Genetic--genetics
rab GTP-Binding Proteins--metabolism