학술논문
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity
Document Type
Article
Author
Nistala, H.; Dronzek, J.; Gonzaga-Jauregui, C.; Chim, S.M.; Scheonherr, C.J.; Zambrowicz, B.; Economides, A.N.; Rajamani, S.; Nuwayhid, S.; Delgado, D.; Franklin, M.C.; Sarangapani, P.; Podgorski, M.; Tang, Y.; Dominguez, M.G.; Deckelbaum, R.A.; Gale, N.W.; Burke, E.; Gahl, W.A.; Malicdan, M.C.; Karaca, E.; Withers, M.; Gibbs, R.A.; Lupski, J.R.; Chung, W.K.
Source
In: Human Molecular Genetics . (Human Molecular Genetics, 1 November 2020, 29(21):3516-3531)
Subject
Language
English
ISSN
14602083
09646906
09646906