دورية أكاديمية
An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation
| العنوان: | An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation |
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| المؤلفون: | Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, United Kingdom (M.U., M.D., N.T., N.C., S. Griffiths, C.C.) ( host institution ), Upadhyaya, M. ( author ), Huson, S.M. ( author ), Davies, M. ( author ), Thomas, N. ( author ), Chuzhanova, N. ( author ), Giovannini, S. ( author ), Evans, D.G. ( author ), Howard, E. ( author ), Kerr, B. ( author ), Griffiths, S. ( author ), Consoli, C. ( author ), Side, L. ( author ), Adams, D. ( author ), Pierpont, M. ( author ), Hachen, R. ( author ), Barnicoat, A. ( author ), Li, H. ( UF author ), Wallace, P. ( UF author ), Van Biervliet, J.P. ( author ), Stevenson, D. ( author ), Viskochil, D. ( author ), Baralle, D. ( author ), Haan, E. ( author ), Riccardi, V. ( author ), Turnpenny, P. ( author ), Lazaro, C. ( author ), Messiaen, L. ( author ) |
| بيانات النشر: | The American Society of Human Genetics. Published by Elsevier Inc. |
| سنة النشر: | 2007 |
| المجموعة: | University of Florida: Digital Library Center |
| الوصف: | 2016-12-24T18:05:51Z |
| نوع الوثيقة: | text |
| وصف الملف: | Pages 140-151 |
| اللغة: | English |
| العلاقة: | The American Journal of Human Genetics; S0002929707609288; http://ufdc.ufl.edu/LS00500746/00001Test |
| DOI: | 10.1086/510781 |
| الإتاحة: | https://doi.org/10.1086/510781Test http://ufdc.ufl.edu/LS00500746/00001Test |
| حقوق: | This item is licensed with the Creative Commons Attribution No Derivatives License. This license allows for redistribution, commercial and non-commercial, as long as it is passed along unchanged and in whole, with credit to the author. © 2007 |
| رقم الانضمام: | edsbas.D4294747 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1086/510781 |
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