title: From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
authors.affiliation: CHU Grenoble, Laboratoire de Biochimie et Génétique Moléculaire, Grenoble, France.
authors.forename: Haifa
authors.initials: H
authors.lastname: Hichri
authors.forename: John
authors.initials: J
authors.lastname: Rendu
authors.forename: Nicole
authors.initials: N
authors.lastname: Monnier
authors.forename: Charles
authors.initials: C
authors.lastname: Coutton
authors.forename: Olivier
authors.initials: O
authors.lastname: Dorseuil
authors.forename: Rosa Vargas
authors.initials: RV
authors.lastname: Poussou
authors.forename: Geneviève
authors.initials: G
authors.lastname: Baujat
authors.forename: Anne
authors.initials: A
authors.lastname: Blanchard
authors.forename: François
authors.initials: F
authors.lastname: Nobili
authors.forename: Bruno
authors.initials: B
authors.lastname: Ranchin
authors.forename: Michel
authors.initials: M
authors.lastname: Remesy
authors.forename: Rémi
authors.initials: R
authors.lastname: Salomon
authors.forename: Véronique
authors.initials: V
authors.lastname: Satre
authors.forename: Joel
authors.initials: J
authors.lastname: Lunardi
mesh_terms: D018118:Chloride Channels / Q000235:genetics; D004252:DNA Mutational Analysis; D057973:Dent Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D012333:RNA, Messenger / Q000378:metabolism
chemical_list: C097503:CLC-5 chloride channel; D018118:Chloride Channels; D012333:RNA, Messenger; D010744:Phosphoric Monoester Hydrolases; C075695:OCRL protein, human