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Article

Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.

Biochemical and biophysical research communications - 30 Aug 1991

Fukao T, Yamaguchi S, Tomatsu S, Orii T, Frauendienst-Egger G, Schrod L, Osumi T, Hashimoto T

Abstract excerpt

The molecular basis of 3-ketothiolase deficiency (3KTD) was examined in a 3KTD family. Immunochemical analyses showed that mitochondrial acetoacetyl-CoA thiolase (T2) biosynthesized in the patient's fibroblasts (GK06) was unstable and that the parents and brother were obligatory carriers of 3KTD. When sequencing the PCR-amplified patient's T2 cDNA, we noted a G to A replacement which caused 347Ala to Thr...

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PMID: 1715688
DOI: 10.1016/0006-291x(91)91343-b

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.PMID 1715688Read ↗

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