학술논문
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Document Type
Article
Author
Fiordaliso, S.K.; Iwata-Otsubo, A.; Ritter, A.L.; Bhoj, E.; Hakonarson, H.; Keena, B.; Zackai, E.H.; Izumi, K.; Quesnel-Vallières, M.; Barash, Y.; Fujiki, K.; Bando, M.; Masuda, K.; Nakato, R.; Shirahige, K.; Nishi, E.; Arakawa, M.; Takeda, R.; Hancarova, M.; Prchalova, D.; Vlckova, M.; Sedlacek, Z.; Miyake, N.; Matsumoto, N.; Morton, J.E.V.; Lee, S.; Choi, M.; Hackmann, K.; Di Donato, N.; Li, D.; Harr, M.; Okamoto, N.; Mizuno, S.; Ko, J.M.; Valachova, A.; Pippucci, T.; Seiler, C.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 November 2019, 105(5):987-995)
Subject
Language
English
ISSN
15376605
00029297
00029297