A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
| Autor: | Tulinius, M´r1 mar.tulinius@vgregion.se, Darin, Niklas1, Wiklund, Lars-Martin1, Holmberg, Eva2, Eriksson, Jan Erik3, Lissens, Willy4, De Meirleir, Linda4, Holme, Elisabeth5, Tulinius, Már6 (AUTHOR) |
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| Zdroj: | European Journal of Pediatrics. Feb2005, Vol. 164 Issue 2, p99-103. 5p. 2 Diagrams, 3 Charts. |
| Databáze: | Academic Search Ultimate |
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