title: Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
authors.affiliation: Laboratoire
authors.forename: L
authors.initials: L
authors.lastname: Michel-Calemard
authors.forename: F
authors.initials: F
authors.lastname: Dijoud
authors.forename: M
authors.initials: M
authors.lastname: Till
authors.forename: J C
authors.initials: JC
authors.lastname: Lambert
authors.forename: M
authors.initials: M
authors.lastname: Vercherat
authors.forename: V
authors.initials: V
authors.lastname: Tardy
authors.forename: C
authors.initials: C
authors.lastname: Coubes
authors.forename: Y
authors.initials: Y
authors.lastname: Morel
mesh_terms: D000328:Adult; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics* / Q000473:pathology; D011956:Receptors, Cell Surface / Q000235:genetics*
chemical_list: C451750:PKHD1 protein, human; D011956:Receptors, Cell Surface