Open AccessBiochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity
Author(s) -
Junmei Hu Frisk,
Jo Vanoevelen,
Jörgen Bierau,
Gunnar Pejler,
Staffan Eriksson,
Liya Wang
Publication year - 2021
Publication title -
acs omega
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.779
H-Index - 40
ISSN - 2470-1343
DOI - 10.1021/acsomega.1c05288
Subject(s) - mutant , frameshift mutation , enzyme , amino acid , enzyme kinetics , mutation , biochemistry , biology , isozyme , chemistry , active site , gene