Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

• 期刊名称The American Journal of Human Genetics
• 作者Koczkowska, Magdalena; Chen, Yunjia; Callens, Tom; Gomes, Alicia; Sharp, Angela; Johnson, Sherrell; Hsiao, Meng-Chang; Chen, Zhenbin; Balasubramanian, Meena; Barnett, Christopher P.; Becker, Troy A.; Ben-Shachar, Shay; Bertola, Debora R.; Blakeley, Jaishri O.; Burkitt-Wright, Emma M.M.; Callaway, Alison; Crenshaw, Melissa; Cunha, Karin S.; Cunningham, Mitch; D’Agostino, Maria D.; Dahan, Karin; De Luca, Alessandro; Destrée, Anne; Dhamija, Radhika; Eoli, Marica; Evans, D. Gareth R.; Galvin-Parton, Patricia; George-Abraham, Jaya K.; Gripp, Karen W.; Guevara-Campos, Jose; Hanchard, Neil A.; Hernández-Chico, Concepcion; Immken, LaDonna; Janssens, Sandra; Jones, Kristi J.; Keena, Beth A.; Kochhar, Aaina; Liebelt, Jan; Martir-Negron, Arelis; Mahoney, Maurice J.; Maystadt, Isabelle; McDougall, Carey; McEntagart, Meriel; Mendelsohn, Nancy; Miller, David T.; Mortier, Geert; Morton, Jenny; Pappas, John; Plotkin, Scott R.; Pond, Dinel; Rosenbaum, Kenneth; Rubin, Karol; Russell, Laura; Rutledge, Lane S.; Saletti, Veronica; Schonberg, Rhonda; Schreiber, Allison; Seidel, Meredith; Siqveland, Elizabeth; Stockton, David W.; Trevisson, Eva; Ullrich, Nicole J.; Upadhyaya, Meena; van Minkelen, Rick; Verhelst, Helene; Wallace, Margaret R.; Yap, Yoon-Sim; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen; Martin, Yolanda; Korf, Bruce R.; Legius, Eric; Messiaen, Ludwine M.
• 印刷ISSN0002-9297
• 文件大小705.98KB
• 发表时间2017-12
• DOI10.1016/j.ajhg.2017.12.001