Mutations in the gene for the E1β subunit: a novel cause of pyruvate dehydrogenase deficiency
We describe two unrelated patients with pyruvate dehydrogenase (PDH) deficiency attributable to mutations in the gene encoding the EIβ subunit of the complex. This is a previously unrecognised form of PDH deficiency, which most commonly results from mutations in the X-linked gene for the E1β subunit...
| Glavni autori: | , , , , , |
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| Format: | Journal article |
| Jezik: | English |
| Izdano: |
Springer
2004
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| Teme: |