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. 1993;16(5):863-7.

doi: 10.1007/BF00714279.

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

T Ohura¹, K Narisawa, K Tada

Affiliations

PMID: 8295402
DOI: 10.1007/BF00714279

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

T Ohura et al. J Inherit Metab Dis. 1993.

. 1993;16(5):863-7.

doi: 10.1007/BF00714279.

Authors

T Ohura¹, K Narisawa, K Tada

Affiliation

¹ Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

PMID: 8295402
DOI: 10.1007/BF00714279

No abstract available

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References

1. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7 - PubMed
1. Hum Genet. 1991 May;87(1):41-4 - PubMed
1. Am J Hum Genet. 1989 Jul;45(1):33-40 - PubMed
1. J Biol Chem. 1980 Jan 10;255(1):60-5 - PubMed
1. Proc Natl Acad Sci U S A. 1990 Feb;87(4):1372-6 - PubMed

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