Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

Annalisa Frattini(Tecnologie Avanzate (Italy)), Paul J. Orchard(University of Minnesota), Cristina Sobacchi(Institute of Biomedical Technologies), Silvia Giliani(University of Brescia), Mario Abinun(Newcastle upon Tyne Hospitals NHS Foundation Trust), Jan P. Mattsson(AstraZeneca (Sweden)), David J. Keeling(AstraZeneca (Sweden)), Ann-Katrin Andersson(AstraZeneca (Sweden)), Pia Wallbrandt(AstraZeneca (Sweden)), Luigi Zecca(Institute of Biomedical Technologies), Luigi D. Notarangelo(University of Brescia), Paolo Vezzoni(Tecnologie Avanzate (Italy)), Anna Villa(Tecnologie Avanzate (Italy))
Nature Genetics
July 1, 2000
Cited by 676

Abstract


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