RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.

Pangrazio, Alessandra

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. [electronic resource] - Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research Feb 2012 - 342-51 p. digital

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

1523-4681

10.1002/jbmr.559 doi


Amino Acid Sequence
B-Lymphocytes--metabolism
Cell Compartmentation
Cell Differentiation
Female
Follow-Up Studies
Hematopoietic Stem Cell Transplantation
Humans
Infant
Infant, Newborn
Male
Molecular Sequence Data
Mutation--genetics
Osteoclasts--pathology
Osteopetrosis--congenital
Receptor Activator of Nuclear Factor-kappa B--chemistry