TY  - GEN
AU  - Pangrazio,Alessandra
AU  - Cassani,Barbara
AU  - Guerrini,Matteo M
AU  - Crockett,Julie C
AU  - Marrella,Veronica
AU  - Zammataro,Luca
AU  - Strina,Dario
AU  - Schulz,Ansgar
AU  - Schlack,Claire
AU  - Kornak,Uwe
AU  - Mellis,David J
AU  - Duthie,Angela
AU  - Helfrich,Miep H
AU  - Durandy,Anne
AU  - Moshous,Despina
AU  - Vellodi,Ashok
AU  - Chiesa,Robert
AU  - Veys,Paul
AU  - Lo Iacono,Nadia
AU  - Vezzoni,Paolo
AU  - Fischer,Alain
AU  - Villa,Anna
AU  - Sobacchi,Cristina
TI  - RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations
SN  - 1523-4681
PY  - 2012///0613
KW  - Amino Acid Sequence
KW  - B-Lymphocytes
KW  - metabolism
KW  - Cell Compartmentation
KW  - Cell Differentiation
KW  - Female
KW  - Follow-Up Studies
KW  - Hematopoietic Stem Cell Transplantation
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - genetics
KW  - Osteoclasts
KW  - pathology
KW  - Osteopetrosis
KW  - congenital
KW  - Receptor Activator of Nuclear Factor-kappa B
KW  - chemistry
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/jbmr.559
ER  -