Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
Details
Serval ID
serval:BIB_2021
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
Journal
Human Mutation
ISSN
1059-7794
Publication state
Published
Issued date
1997
Volume
9
Number
3
Pages
277-279
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Keywords
Acetyl-CoA C-Acetyltransferase/genetics, Acetyl-CoA C-Acyltransferase/deficiency, DNA Mutational Analysis, Exons, Female, Frameshift Mutation, Humans, Immunoblotting, Infant, Male, Metabolism, Inborn Errors/diagnosis, Metabolism, Inborn Errors/genetics, Mitochondria/enzymology, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational
OAI-PMH
Pubmed
Web of science
Create date
19/11/2007 13:14
Last modification date
20/08/2019 13:56
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