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language
eng
Author
Abdelkreem Elsayed Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt
Harijan Rajesh K Department of Biochemistry, Albert Einstein College of Medicine, New York, New York
Yamaguchi, Seiji
Wierenga Rikkert K. Biocenter Oulu and FBMM, University of Oulu, Oulu, Finland
Fukao Toshiyuki Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan
Subject
ACAT1; genotype-phenotype correlation; mutations; structure; T2-deficiency; variants; beta-ketothiolase deficiency
Journal Title
HUMAN MUTATION
Volume
40
Issue
10
Start Page
1641
End Page
1663
ISSN
1059-7794
ISSN(Online)
1098-1004
Published Date
2019-10
DOI
PubMed ID
Publisher
WILEY
NII Type
Journal Article
OAI-PMH Set
Faculty of Medicine