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A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency

Lookup NU author(s): Professor Zofia Chrzanowska-Lightowlers, Dr Morteza Pourfarzam, Professor Robert Taylor, Professor Doug Turnbull

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Publication metadata

Author(s): Deschauer M, Chrzanowska-Lightowlers ZMA, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S

Publication type: Article

Journal: Molecular Genetics and Metabolism

Year: 2003

Volume: 79

Issue: 2

Pages: 124-128

ISSN (print): 1096-7192

ISSN (electronic): 1096-7206

Publisher: Academic Press

URL: http://dx.doi.org/10.1016/S1096-7192(03)00067-2

DOI: 10.1016/S1096-7192(03)00067-2

PubMed id: 12809643


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