Identification of three novel frameshift mutations (83delAT, 75insCT, 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_1237
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Identification of three novel frameshift mutations (83delAT, 75insCT, 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
Author(s)
Fukao T, Song XQ, Yamaguchi S, Kondo N, Orii T, Matthieu JM, Bachmann C, Hashimoto T
Publication state
Published
Issued date
1997
Volume
9
Pages
277-279
Create date
19/11/2007 12:03
Last modification date
20/08/2019 12:40
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