@ARTICLE{
author={Sobacchi Cristina|,Frattini A|,Orchard PJ|,Porras O|,Tezcan I|,Andolina M|,Babul-Hirji R|,Baric I|,Canham N|,Chitayat D|,Dupuis-Girod S|,Ellis I|,Etzioni A|,Fasth A|,Fisher A|,Gerritsen B|,Gulino V|,Horwitz EM|,Klamroth V|,Lanino E|,Mirolo M|,Musio A|,Matthijs G|,Nonomaya S|,Notarangelo LD|,Ochs HD|,Furga AS|,Valiaho J|,van Hove JLK|,Vihinen M|,Vujic Dragana S|,Vezzoni P|,Villa A|},
year={2001},
title={The mutational spectrum of human malignant autosomal recessive osteopetrosis},
journal={HUMAN MOLECULAR GENETICS},
volume={10},
number={17},
pages={1767-1773},
document_type={Article},
}