RT Journal Article SR Electronic T1 Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 336 OP 349 DO 10.1136/jmg.2004.024489 VO 42 IS 4 A1 A M Sharp A1 L M Messiaen A1 G Page A1 C Antignac A1 M-C Gubler A1 L F Onuchic A1 S Somlo A1 G G Germino A1 L M Guay-Woodford YR 2005 UL http://jmg.bmj.com/content/42/4/336.abstract AB