title: Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
authors.forename: A M
authors.initials: AM
authors.lastname: Sharp
authors.forename: L M
authors.initials: LM
authors.lastname: Messiaen
authors.forename: G
authors.initials: G
authors.lastname: Page
authors.forename: C
authors.initials: C
authors.lastname: Antignac
authors.forename: M-C
authors.initials: MC
authors.lastname: Gubler
authors.forename: L F
authors.initials: LF
authors.lastname: Onuchic
authors.forename: S
authors.initials: S
authors.lastname: Somlo
authors.forename: G G
authors.initials: GG
authors.lastname: Germino
authors.forename: L M
authors.initials: LM
authors.lastname: Guay-Woodford
mesh_terms: D015331:Cohort Studies; D004252:DNA Mutational Analysis / Q000379:methods*; D005069:Evaluation Studies as Topic; D005260:Female; D005333:Fetus / Q000378:metabolism; D005820:Genetic Testing / Q000379:methods*; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D017044:Polycystic Kidney, Autosomal Recessive / Q000097:blood / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D011956:Receptors, Cell Surface / Q000032:analysis / Q000235:genetics*
chemical_list: C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface