Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Bower, Matthew; Salomon, Rémi; Allanson, Judith; Antignac, Corinne; Benedicenti, Francesco; Benetti, Elisa; Binenbaum, Gil; Jensen, Uffe B; Cochat, Pierre; DeCramer, Stephane; Dixon, Joanne; Drouin, Regen; Falk, Marni J; Feret, Holly; Gise, Robert; Hunter, Alasdair; Johnson, Kisha; Kumar, Rajiv; Lavocat, Marie Pierre; Martin, Laura; Morinière, Vincent; Mowat, David; Murer, Luisa; Nguyen, Hiep T; Peretz-Amit, Gabriela; Pierce, Eric; Place, Emily; Rodig, Nancy; Salerno, Ann; Sastry, Sujatha; Sato, Tadashi; Sayer, John A; Schaafsma, Gerard C P; Shoemaker, Lawrence; Stockton, David W; Tan, Wen-Hann; Tenconi, Romano; Vanhille, Philippe; Vats, Abhay; Wang, Xinjing; Warman, Berta; Weleber, Richard G; White, Susan M; Wilson-Brackett, Carolyn; Zand, Dina J; Eccles, Michael; Schimmenti, Lisa A; Heidet, Laurence

Bower, Matthew; Salomon, Rémi; Allanson, Judith; Antignac, Corinne; Benedicenti, Francesco; Benetti, Elisa; Binenbaum, Gil; Jensen, Uffe B; Cochat, Pierre; DeCramer, Stephane; Dixon, Joanne; Drouin, Regen; Falk, Marni J; Feret, Holly; Gise, Robert; Hunter, Alasdair; Johnson, Kisha; Kumar, Rajiv; Lavocat, Marie Pierre; Martin, Laura; Morinière, Vincent; Mowat, David; Murer, Luisa; Nguyen, Hiep T; Peretz-Amit, Gabriela; Pierce, Eric; Place, Emily; Rodig, Nancy; Salerno, Ann; Sastry, Sujatha; Sato, Tadashi; Sayer, John A; Schaafsma, Gerard C P; Shoemaker, Lawrence; Stockton, David W; Tan, Wen-Hann; Tenconi, Romano; Vanhille, Philippe; Vats, Abhay; Wang, Xinjing; Warman, Berta; Weleber, Richard G; White, Susan M; Wilson-Brackett, Carolyn; Zand, Dina J; Eccles, Michael; Schimmenti, Lisa A; Heidet, Laurence.

Afiliação

Bower M; Division of Genetics and Metabolism, University of Minnesota Medical Center, Fairview, Minneapolis, Minnesota, USA. mbower1@fairview.org

Hum Mutat ; 33(3): 457-66, 2012 Mar.

Article em En | MEDLINE | ID: mdl-22213154

Assuntos

Coloboma/genética; Bases de Dados Genéticas; Fator de Transcrição PAX2/genética; Insuficiência Renal/genética; Refluxo Vesicoureteral/genética; Animais; Humanos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Refluxo Vesicoureteral / Coloboma / Bases de Dados Genéticas / Insuficiência Renal / Fator de Transcrição PAX2 Limite: Animals / Humans Idioma: En Ano de publicação: 2012 Tipo de documento: Article

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