التفاصيل البيبلوغرافية
| العنوان: |
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 |
| المؤلفون: |
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA ( host institution ), Koczkowska, Magdalena ( author ), Chen, Yunjia ( author ), Callens, Tom ( author ), Gomes, Alicia ( author ), Sharp, Angela ( author ), Johnson, Sherrell ( author ), Hsiao, Meng-Chang ( author ), Chen, Zhenbin ( author ), Balasubramanian, Meena ( author ), Barnett, Christopher P. ( author ), Becker, Troy A. ( author ), Ben-Shachar, Shay ( author ), Bertola, Debora R. ( author ), Blakeley, Jaishri O. ( author ), Burkitt-Wright, Emma M.M. ( author ), Callaway, Alison ( author ), Crenshaw, Melissa ( author ), Cunha, Karin S. ( author ), Cunningham, Mitch ( author ), D’Agostino, Maria D. ( author ), Dahan, Karin ( author ), De Luca, Alessandro ( author ), Destrée, Anne ( author ), Dhamija, Radhika ( author ), Eoli, Marica ( author ), Evans, D. Gareth R. ( author ), Galvin-Parton, Patricia ( author ), George-Abraham, Jaya K. ( author ), Gripp, Karen W. ( author ), Guevara-Campos, Jose ( author ), Hanchard, Neil A. ( author ), Hernández-Chico, Concepcion ( author ), Immken, LaDonna ( author ), Janssens, Sandra ( author ), Jones, Kristi J. ( author ), Keena, Beth A. ( author ), Kochhar, Aaina ( author ), Liebelt, Jan ( author ), Martir-Negron, Arelis ( author ), Mahoney, Maurice J. ( author ), Maystadt, Isabelle ( author ), McDougall, Carey ( author ), McEntagart, Meriel ( author ), Mendelsohn, Nancy ( author ), Miller, David T. ( author ), Mortier, Geert ( author ), Morton, Jenny ( author ), Pappas, John ( author ), Plotkin, Scott R. ( author ), Pond, Dinel ( author ), Rosenbaum, Kenneth ( author ), Rubin, Karol ( author ), Russell, Laura ( author ), Rutledge, Lane S. ( author ), Saletti, Veronica ( author ), Schonberg, Rhonda ( author ), Schreiber, Allison ( author ), Seidel, Meredith ( author ), Siqveland, Elizabeth ( author ), Stockton, David W. ( author ), Trevisson, Eva ( author ), Ullrich, Nicole J. ( author ), Upadhyaya, Meena ( author ), van Minkelen, Rick ( author ), Verhelst, Helene ( author ), Wallace, Margaret R. ( UF author ), Yap, Yoon-Sim ( author ), Zackai, Elaine ( author ), Zonana, Jonathan ( author ), Zurcher, Vickie ( author ), Claes, Kathleen ( author ), Martin, Yolanda ( author ), Korf, Bruce R. ( author ), Legius, Eric ( author ), Messiaen, Ludwine M. ( author ) |
| بيانات النشر: |
The Authors. |
| سنة النشر: |
2017 |
| المجموعة: |
University of Florida: Digital Library Center |
| مصطلحات موضوعية: |
neurofibromatosis type 1, NF1, genotype-phenotype correlation, missense mutation, codons 844–848, spinal NF, MPNST, plexiform neurofibroma, CSRD |
| الوصف: |
2018-01-12T13:51:01Z |
| نوع الوثيقة: |
text |
| وصف الملف: |
Pages |
| اللغة: |
English |
| العلاقة: |
The American Journal of Human Genetics; S0002929717304901; http://ufdc.ufl.edu/LS00593248/00001Test |
| DOI: |
10.1016/j.ajhg.2017.12.001 |
| الإتاحة: |
https://doi.org/10.1016/j.ajhg.2017.12.001Test
http://ufdc.ufl.edu/LS00593248/00001Test |
| 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. © 2017 |
| رقم الانضمام: |
edsbas.A80D4724 |
| قاعدة البيانات: |
BASE |
