Characterization of a point mutation in the pyruvate dehydrogenase E1? gene from two boys with primary lactic acidaemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF00711616
Reference19 articles.
1. Brown RM, Dahl H-HM, Brown GK (1989) X chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.Genomics 4: 174?181.
2. Dahl H-HM, Hunt SM, Hutchison WM, Brown GK (1987) The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1? subunit, sequence analysis, and characterization of the mRNA.J Biol Chem 262(15): 7398?7403.
3. Dahl H-HM, Brown GK, Brown RM et al (1992) Mutations and polymorphisms in the pyruvate dehydrogenase E1? gene.Hum Mutat 1: 97?102.
4. De Meirleir L, MacKay N, Lam HWAM, Robinson BH (1988) Isolation of a full-length complementary DNA coding for human E1? subunit of the pyruvate dehydrogenase complex.J Biol Chem 263(4): 1991?1995.
5. Endo H (1989) Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1?-subunit caused by a frame shift.Am J Hum Genet 44: 358?364.
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