@article{articled4af9838, title = {Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts}, author = {Sharp, A. M. and Messiaen, L. M. and Page, G. and Gubler, M-C and Antignac, C. and Onuchic, Luiz Fernando and Somlo, S. and Germino, G. G. and Guay-Woodford, L. M.}, year = {2005}, doi = {10.1136/jmg.2004.024489}, journal = {Journal of Medical Genetics} }