Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Human Mutation

Volumn 36, Issue 8, 2015, Pages 743-752

  Mansour Hendili, Lamisse ^a,b   Blanchard, Anne ^a,b,c,d   Le Pottier, Nelly ^b   Roncelin, Isabelle ^b   Lourdel, Stéphane ^e,f   Treard, Cyrielle ^b,c   González, Wendy ^g   Vergara Jaque, Ariela ^g   Morin, Gilles ^h   Colin, Estelle ⁱ   Holder Espinasse, Muriel ^j,k   Bacchetta, Justine ^l   Baudouin, Véronique ^d,m   Benoit, Stéphane ⁿ   Bérard, Etienne ^o   Bourdat Michel, Guylhène ^p   Bouchireb, Karim ^d,q   Burtey, Stéphane ^r   Cailliez, Mathilde ^s   Cardon, Gérard ^t   Cartery, Claire ^u   Champion, Gerard ⁱ   Chauveau, Dominique ^v   Cochat, Pierre ^l   Dahan, Karin ^w   De la Faille, Renaud ^x   Debray, François Guillaume ^y   Dehoux, Laurenne ^d,m   Deschenes, Georges ^d,m   Desport, Estelle ^z   Devuyst, Olivier ^aa,ab   Dieguez, Stella ^ac   Emma, Francesco ^ad   Fischbach, Michel ^ae   Fouque, Denis ^af   Fourcade, Jacques ^ag   François, Hélène ^ah   Gilbert Dussardier, Brigitte ^z   Hannedouche, Thierry ^ai   Houillier, Pascal ^a,b,d,f   Izzedine, Hassan ^aj   Janner, Marco ^ak   Karras, Alexandre ^b   Knebelmann, Bertrand ^d,q   Lavocat, Marie Pierre ^al   Lemoine, Sandrine ^am   Leroy, Valérie ^j   Loirat, Chantal ^d,m   Macher, Marie Alice ^d,m   Martin Coignard, Dominique ^an   Morin, Denis ^ao   Niaudet, Patrick ^d,q   Nivet, Hubert ⁿ   Nobili, François ^ap   Novo, Robert ^j   Faivre, Laurence ^aq   Rigothier, Claire ^x   Roussey Kesler, Gwenaëlle ^ar   Salomon, Remi ^a,d,q   Schleich, Andreas ^as   Sellier Leclerc, Anne Laure ^l   Soulami, Kenza ^at   Tiple, Aurélien ^au   Ulinski, Tim ^d,av   Vanhille, Philippe ^aw   Van Regemorter, Nicole ^ax   Jeunemaître, Xavier ^a,b,c,d   Vargas Poussou, Rosa ^b,c,d   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^c PARIS CARDIOVASCULAR RESEARCH CENTER   (France)

^d Reference Center for Maladies Rénales Héréditaires de l'Enfant et de l'Adulte MARHEA   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f INSERM   (France)

^g UNIVERSIDAD DE TALCA   (Chile)

^h AMIENS UNIVERSITY HOSPITAL   (France)

ⁱ ANGERS UNIVERSITY HOSPITAL   (France)

^j LILLE UNIVERSITY HOSPITAL   (France)

^k GUY S HOSPITAL   (United Kingdom)

^l HOSPICES CIVILS DE LYON   (France)

^m HÔPITAL ROBERT DEBRÉ   (France)

ⁿ UNIVERSITY HOSPITAL OF TOURS   (France)

^o UNIVERSITY HOSPITAL OF NICE   (France)

^p GRENOBLE UNIVERSITY HOSPITAL   (France)

^q HÔPITAL NECKER ENFANTS MALADES   (France)

^r AIX MARSEILLE UNIVERSITY   (France)

^s TIMONE HOSPITAL   (France)

^t CENTRE HOSPITALIER DE DOUAI   (France)

^u HÔPITAL TENON   (France)

^v CHU RANGUEIL   (France)

^w INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^x BORDEAUX UNIVERSITY HOSPITAL   (France)

^y UNIVERSITY OF LIÈGE   (Belgium)

^z POITIERS UNIVERSITY HOSPITAL   (France)

^aa CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^ab UNIVERSITY OF ZURICH   (Switzerland)

^ac Hospital General De Agudos Teodoro Alvarez   (Argentina)

^ad BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^ae HÔPITAL DE HAUTEPIERRE   (France)

^af CENTRE HOSPITALIER LYON SUD   (France)

^ag CENTRE HOSPITALIER DE CHAMBÉRY   (France)

^ah BICÊTRE HOSPITAL   (France)

^ai UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^aj PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^ak UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^al HÔPITAL NORD   (France)

^am EDOUARD HERRIOT HOSPITAL   (France)

^an CENTRE HOSPITALIER DU MANS   (France)

^ao MONTPELLIER UNIVERSITY HOSPITAL   (France)

^ap UNIVERSITY HOSPITAL OF BESANÇON   (France)

^aq DIJON UNIVERSITY HOSPITAL   (France)

^ar NANTES UNIVERSITY HOSPITAL   (France)

^as Institute of Nephrology Statspital Waid Zuerich   (Switzerland)

^at Néphrologue Pédiatre   (Morocco)

^au SERVICE DE RHUMATOLOGIE   (France)

^av ARMAND TROUSSEAU HOSPITAL   (France)

^aw CENTRE HOSPITALIER DE VALENCIENNES   (France)

^ax ERASME HOSPITAL   (Belgium)

more..

Author keywords

ClC 5; CLCN5; Dent disease 1; Low molecular weight proteinuria; Renal failure

Indexed keywords

CHLORIDE CHANNEL; CLC-5 CHLORIDE CHANNEL;

ADOLESCENT; ADULT; ARTICLE; CLCN5 GENE; COHORT ANALYSIS; DELETION MUTANT; DENT DISEASE; DENT DISEASE 1; DIMERIZATION; FAMILY STUDY; FRAMESHIFT MUTATION; GENE; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STABILITY; PROTEIN TRANSPORT; RNA SPLICING; ANIMAL; CHEMISTRY; GENETIC ASSOCIATION STUDY; GENETICS; KNOCKOUT MOUSE; METABOLISM; MOUSE; MUTATION; PEDIGREE;

ANIMALS; CHLORIDE CHANNELS; COHORT STUDIES; DENT DISEASE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MICE; MICE, KNOCKOUT; MUTATION; PEDIGREE;

EID: 84937733152     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22804     Document Type: Article

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