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Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. [electronic resource] by
- Matthews, P M
- Brown, R M
- Otero, L J
- Marchington, D R
- LeGris, M
- Howes, R
- Meadows, L S
- Shevell, M
- Scriver, C R
- Brown, G K
Producer: 19940818
In:
Brain : a journal of neurology vol. 117 ( Pt 3)
Availability: No items available.
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17.
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New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation. [electronic resource] by
- Pulkes, T
- Liolitsa, D
- Eunson, L H
- Rose, M
- Nelson, I P
- Rahman, S
- Poulton, J
- Marchington, D R
- Landon, D N
- Debono, A G
- Morgan-Hughes, J A
- Hanna, M G
Producer: 20050617
In:
Neuromuscular disorders : NMD vol. 15
Availability: No items available.
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Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. [electronic resource] by
- Rovio, A T
- Marchington, D R
- Donat, S
- Schuppe, H C
- Abel, J
- Fritsche, E
- Elliott, D J
- Laippala, P
- Ahola, A L
- McNay, D
- Harrison, R F
- Hughes, B
- Barrett, T
- Bailey, D M
- Mehmet, D
- Jequier, A M
- Hargreave, T B
- Kao, S H
- Cummins, J M
- Barton, D E
- Cooke, H J
- Wei, Y H
- Wichmann, L
- Poulton, J
- Jacobs, H T
Producer: 20011207
In:
Nature genetics vol. 29
Availability: No items available.
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