| Title |
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
|
| Creator |
Abdelkreem Elsayed
Harijan Rajesh K
Wierenga Rikkert K.
Fukao Toshiyuki
|
| Source Title |
HUMAN MUTATION
|
| Volume | 40 |
| Issue | 10 |
| Start Page | 1641 |
| End Page | 1663 |
| Journal Identifire |
ISSN 1059-7794
EISSN 1098-1004
|
| Subjects |
ACAT1; genotype-phenotype correlation; mutations; structure; T2-deficiency; variants; beta-ketothiolase deficiency
|
| Language |
eng
|
| Resource Type | journal article |
| Publisher |
WILEY
|
| Date of Issued | 2019-10 |
| Access Rights | metadata only access |
| Relation |
[DOI] 10.1002/humu.23831
[PMID] 31268215
|
