| 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
|
