학술논문
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Document Type
Artikel
Author
van Loggerenberg, W; Sowlati-Hashjin, S; Weile, J; Hamilton, R; Chawla, A; Sheykhkarimli, D; Gebbia, M; Kishore, N; Fresard, L; Mustajoki, S; Pischik, E; Di Pierro, E; Barbaro, M; Floderus, Y; Schmitt, C; Gouya, L; Colavin, A; Nussbaum, R; Friesema, ECH; Kauppinen, R; To-Figueras, J; Aarsand, AK; Desnick, RJ; Garton, M; Roth, FP
Source
American journal of human genetics. 110(10):1769-1786
Subject
Language
English
English
English
ISSN
1537-6605