Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the Elα subunit
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF02265291.pdf
Reference21 articles.
1. Brown GK, Scholem RD, Hunt SM, Harrison JR, Pollard AC (1987) Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency. J Inherited Metab Dis 10:359–366
2. Brown RM, Dahl H-HM, Brown GK (1989a) X-chromosome location of the functional gene for the El alpha subunit of the pyruvate dehydrogenase complex. Genomics 4:174–181
3. Brown GK, Brown RM, Scholem RD, Kirby DM, Dahl H-HM (1989b) The clinical and biochemical spectrum of human pyruvate dehydrogenase deficiency. Ann NY Acad Sci 573:360–368
4. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156–159
5. Dahl H-HM, Hunt SM, Hutchinson WM, Brown GK (1987) The human pyruvate dehydrogenase complex. J Biol Chem 262: 7398–7403
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