Results
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Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. [electronic resource] by
- Imbard, A
- Boutron, A
- Vequaud, C
- Zater, M
- de Lonlay, P
- de Baulny, H Ogier
- Barnerias, C
- Miné, M
- Marsac, C
- Saudubray, J-M
- Brivet, M
Producer: 20120315
In:
Molecular genetics and metabolism vol. 104
Availability: No items available.
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368.
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First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex. [electronic resource] by
- Rouillac, C
- Aral, B
- Fouque, F
- Marchant, D
- Saudubray, J M
- Dumez, Y
- Lindsay, G
- Abitbol, M
- Dufier, J L
- Marsac, C
- Benelli, C
Producer: 20000330
In:
Prenatal diagnosis vol. 19
Availability: No items available.
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376.
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