Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy-Reference-Cited by-同舟云学术

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy

Published:2003-12 Issue:8 Volume:26 Page:816-818
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Hong Y. S.¹,Korman S. H.²,Lee J.³,Ghoshal P.¹,Wu Q.¹,Barash V.²,Kang S.³,Oh S.³,Kwon M.³,Gutman A.²,Rachmel A.⁴,Patel M. S.¹

Affiliation:

1. ; Department of Biochemistry, School of Medicine and Biomedical Sciences; State University of New York at Buffalo; Buffalo NY 14214 USA

2. ; Department of Clinical Biochemistry; Hadassah University Hospital; Jerusalem Israel

3. ; Department of Genetic Engineering; Sungkyunkwan University; Suwon Republic of Korea

4. ; Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000010004.12053.5b/fullpdf

Reference2 articles.

1. Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency;Hong;Hum Mol Genet,1996

2. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews;Shaag;Am J Med Genet,1999

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