title: Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.
authors.affiliation: INSERM, U833, Paris, France. annie.michaud@college-de-france.fr
authors.forename: Annie
authors.initials: A
authors.lastname: Michaud
authors.forename: Daniel
authors.initials: D
authors.lastname: Bur
authors.forename: Olivier
authors.initials: O
authors.lastname: Gribouval
authors.forename: Laurent
authors.initials: L
authors.lastname: Muller
authors.forename: Xavier
authors.initials: X
authors.lastname: Iturrioz
authors.forename: Maud
authors.initials: M
authors.lastname: Clemessy
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Gasc
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Gubler
authors.forename: Pierre
authors.initials: P
authors.lastname: Corvol
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D016466:CHO Cells; D002460:Cell Line; D006224:Cricetinae; D003412:Cricetulus; D005260:Female; D006801:Humans; D007687:Kidney Tubules, Proximal / Q000002:abnormalities / Q000473:pathology; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017354:Point Mutation; D011247:Pregnancy; D017434:Protein Structure, Tertiary; D021381:Protein Transport; D011994:Recombinant Proteins / Q000378:metabolism; D012083:Renin / Q000032:analysis / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D016415:Sequence Alignment; D014564:Urogenital Abnormalities / Q000235:genetics* / Q000473:pathology*
chemical_list: D011994:Recombinant Proteins; D012083:Renin