Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

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Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Year of publication

2019

Authors

Abdelkreem, Elsayed; Harijan, Rajesh K.; Yamaguchi, Seiji; Wierenga, Rikkert K.; Fukao, Toshiyuki

Organizations and authors

University of Oulu

Wierenga Rikkert Orcid -palvelun logo

Publication type

Publication format

Article

Parent publication type

Journal

Article type

Original article

Audience

Scientific

Peer-reviewed

Peer-Reviewed

MINEDU's publication type classification code

A1 Journal article (refereed), original research

Publication channel information

Journal

Human mutation

Issue

10

Pages

1641-1663

ISSN

1059-7794

​Publication forum

57255

​Publication forum level

2

Open access

Open access in the publisher’s service

Yes

Open access of publication channel

Partially open publication channel

Self-archived

Yes

Other information

Fields of science

Biochemistry, cell and molecular biology; Genetics, developmental biology, physiology

Keywords

ACAT1; beta-ketothiolase deficiency; genotype-phenotype correlation; MUTATIONS; structure; T2-deficiency; Variants

Publication country

United States

Internationality of the publisher

International

Language

English

International co-publication

Yes

Co-publication with a company

No

DOI

10.1002/humu.23831

The publication is included in the Ministry of Education and Culture’s Publication data collection

Yes
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency - Research.fi