@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},
}