Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
A M Sharp, L M Messiaen, G Page, C Antignac, M-C Gubler, L F Onuchic, S Somlo, G G Germino, L M Guay-Woodford
Journal of Medical Genetics Apr 2005, 42 (4) 336-349; DOI: 10.1136/jmg.2004.024489