Bartter disease type 3

Literature (2)

Literature for DOID 0110144: Bartter disease type 3

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Clinical and Genetic Spectrum of Bartter Syndrome Type 3., Seys E,Andrini O,Keck M,Mansour-Hendili L,Courand PY,Simian C,Deschenes G,Kwon T,Bertholet-Thomas A,Bobrie G,Borde JS,Bourdat-Michel G,Decramer S,Cailliez M,Krug P,Cozette P,Delbet JD,Dubourg L,Chaveau D,Fila M,Jourde-Chiche N,Knebelmann B,Lavocat MP,Lemoine S,Djeddi D,Llanas B,Louillet F,Merieau E,Mileva M,Mota-Vieira L,Mousson C,Nobili F,Novo R,Roussey-Kesler G,Vrillon I,Walsh SB,Teulon J,Blanchard A,Vargas-Poussou R, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.
Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome., Bignon Y,Sakhi I,Bitam S,Bakouh N,Keck M,Frachon N,Paulais M,Planelles G,Teulon J,Andrini O, Hum Mutat. April 1, 2020; 41(4):1098-1004.

Clinical and Genetic Spectrum of Bartter Syndrome Type 3., Seys E,Andrini O,Keck M,Mansour-Hendili L,Courand PY,Simian C,Deschenes G,Kwon T,Bertholet-Thomas A,Bobrie G,Borde JS,Bourdat-Michel G,Decramer S,Cailliez M,Krug P,Cozette P,Delbet JD,Dubourg L,Chaveau D,Fila M,Jourde-Chiche N,Knebelmann B,Lavocat MP,Lemoine S,Djeddi D,Llanas B,Louillet F,Merieau E,Mileva M,Mota-Vieira L,Mousson C,Nobili F,Novo R,Roussey-Kesler G,Vrillon I,Walsh SB,Teulon J,Blanchard A,Vargas-Poussou R, J Am Soc Nephrol. August 1, 2017; 28(8):1533-3450.

Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome., Bignon Y,Sakhi I,Bitam S,Bakouh N,Keck M,Frachon N,Paulais M,Planelles G,Teulon J,Andrini O, Hum Mutat. April 1, 2020; 41(4):1098-1004.