Literature DB >> 9090533

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.

T Fukao1, X Q Song, S Yamaguchi, N Kondo, T Orii, J M Matthieu, C Bachmann, T Hashimoto.   

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Year:  1997        PMID： 9090533     DOI： 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.

Authors:  Ling Su; Xiuzhen Li; Ruizhu Lin; Huiying Sheng; Zhichun Feng; Li Liu
Journal:  Metab Brain Dis       Date:  2017-09-05       Impact factor: 3.584

Review 2.  Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Authors:  Elsayed Abdelkreem; Rajesh K Harijan; Seiji Yamaguchi; Rikkert K Wierenga; Toshiyuki Fukao
Journal:  Hum Mutat       Date:  2019-07-03       Impact factor: 4.878
  2 in total

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