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- Chomczynski P., Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem. 1987 Apr;162(1):156–159. doi: 10.1006/abio.1987.9999. [DOI] [PubMed] [Google Scholar]
- Dahl H. H., Hutchison W., McAdam W., Wake S., Morgan F. J., Cotton R. G. Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency. Nucleic Acids Res. 1987 Mar 11;15(5):1921–1932. doi: 10.1093/nar/15.5.1921. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Endo H., Hasegawa K., Narisawa K., Tada K., Kagawa Y., Ohta S. Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. Am J Hum Genet. 1989 Mar;44(3):358–364. [PMC free article] [PubMed] [Google Scholar]
- Kelly D. P., Kim J. J., Billadello J. J., Hainline B. E., Chu T. W., Strauss A. W. Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue. Proc Natl Acad Sci U S A. 1987 Jun;84(12):4068–4072. doi: 10.1073/pnas.84.12.4068. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Matsubara Y., Narisawa K., Miyabayashi S., Tada K., Coates P. M., Bachmann C., Elsas L. J., 2nd, Pollitt R. J., Rhead W. J., Roe C. R. Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. Biochem Biophys Res Commun. 1990 Aug 31;171(1):498–505. doi: 10.1016/0006-291x(90)91421-n. [DOI] [PubMed] [Google Scholar]
- Matsubara Y., Narisawa K., Tada K. Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects. Eur J Pediatr. 1992 Mar;151(3):154–159. doi: 10.1007/BF01954373. [DOI] [PubMed] [Google Scholar]
- McCabe E. R., Huang S. Z., Seltzer W. K., Law M. L. DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening. Hum Genet. 1987 Mar;75(3):213–216. doi: 10.1007/BF00281061. [DOI] [PubMed] [Google Scholar]