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Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
Hilgert, Nele; Huentelman, Matthew J; Thorburn, Ashley Q; Fransen, Erik; Dieltjens, Nele; Mueller-Malesinska, Malgorzata; Pollak, Agnieszka; Skorka, Agata; Waligora, Jaroslaw; Ploski, Rafal; Castorina, Pierangela; Primignani, Paola; Ambrosetti, Umberto; Murgia, Alessandra; Orzan, Eva; Pandya, Arti; Arnos, Kathleen; Norris, Virginia; Seeman, Pavel; Janousek, Petr; Feldmann, Delphine; Marlin, Sandrine; Denoyelle, Françoise; Nishimura, Carla J; Janecke, Andreas; Nekahm-Heis, Doris; Martini, Alessandro; Mennucci, Elena; Tóth, Timea; Sziklai, Istvan; Del Castillo, Ignacio; Moreno, Felipe; Petersen, Michael B; Iliadou, Vasiliki; Tekin, Mustafa; Incesulu, Armagan; Nowakowska, Ewa; Bal, Jerzy; Van de Heyning, Paul; Roux, Anne-Françoise; Blanchet, Catherine; Goizet, Cyril; Lancelot, Guenaëlle; Fialho, Graça; Caria, Helena; Liu, Xue Zhong; Xiaomei, Ouyang; Govaerts, Paul; Grønskov, Karen; Hostmark, Karianne.
Affiliation
  • Hilgert N; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Eur J Hum Genet ; 17(4): 517-24, 2009 Apr.
Article in En | MEDLINE | ID: mdl-18985073
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Connexins / Homozygote / Mutation Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Bélgica Country of publication: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Connexins / Homozygote / Mutation Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Bélgica Country of publication: Reino Unido