Results
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Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene. [electronic resource] by
- Magner, M
- Vinšová, K
- Tesařová, M
- Hájková, Z
- Hansíková, H
- Wenchich, L
- Ješina, P
- Smolka, V
- Adam, T
- Vaněčková, M
- Zeman, J
- Honzík, T
Producer: 20110607
In:
Prague medical report vol. 112
Availability: No items available.
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58.
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59.
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60.
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Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. [electronic resource] by
- Horga, Alejandro
- Woodward, Catherine E
- Mills, Alberto
- Pareés, Isabel
- Hargreaves, Iain P
- Brown, Ruth M
- Bugiardini, Enrico
- Brooks, Tony
- Manole, Andreea
- Remzova, Elena
- Rahman, Shamima
- Reilly, Mary M
- Houlden, Henry
- Sweeney, Mary G
- Brown, Garry K
- Polke, James M
- Gago, Federico
- Parton, Matthew J
- Pitceathly, Robert D S
- Hanna, Michael G
Producer: 20191206
In:
Human genetics vol. 138
Availability: No items available.
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