Meili, D., Kralovicova, J., Bonafe, L., Flori, L., Blau, N., Vorechovsky, I. and Thony, B. (2008) Birth of new exons in LINE-2 and in antisense AluSq by intronic mutations in the PTS gene leading to tetrahydrobiopterin (BH4)-cofactor deficiency1. Journal of Inherited Metabolic Disease, 31 (supp.1- 336-P), p.85. (doi:10.1007/s10545-008-9975-0).
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Published date: August 2008
Additional Information:
Annual Symposium of the Society for the Study of Inborn Errors of Metabolism - Lisboa, Portugal, 2–5 September, 2008
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Local EPrints ID: 70803
URI: http://eprints.soton.ac.uk/id/eprint/70803
ISSN: 0141-8955
PURE UUID: fbea0a2e-001e-498b-93a8-9ff1ce34b539
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Date deposited: 10 Mar 2010
Last modified: 14 Mar 2024 02:48
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Author:
D. Meili
Author:
J. Kralovicova
Author:
L. Bonafe
Author:
L. Flori
Author:
N. Blau
Author:
B. Thony
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