دورية أكاديمية
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes
| العنوان: | Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes |
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| المؤلفون: | Léger, Sandy, Balguerie, Xavier, Goldenberg, Alice, Drouin-Garraud, Valérie, Cabot, Annick, Amstutz-Montadert, Isabelle, Young, Paul, Joly, Pascal, Bodereau, Virginie, Holder-Espinasse, Muriel, Jamieson, Robyn V, Krause, Amanda, Chen, Hongsheng, Baumann, Clarisse, Nunes, Luis, Dollfus, Hélène, Goossens, Michel, Pingault, Véronique |
| المصدر: | European Journal of Human Genetics ; volume 20, issue 5, page 584-587 ; ISSN 1018-4813 1476-5438 |
| بيانات النشر: | Springer Science and Business Media LLC |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Genetics (clinical), Genetics |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1038/ejhg.2011.234 |
| الإتاحة: | https://doi.org/10.1038/ejhg.2011.234Test http://www.nature.com/articles/ejhg2011234.pdfTest http://www.nature.com/articles/ejhg2011234Test |
| حقوق: | http://www.springer.com/tdmTest |
| رقم الانضمام: | edsbas.85CA180B |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/ejhg.2011.234 |
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