X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation
| Autor: | Dahl, H. H., Lise Lotte Hansen, Brown, R. M., Danks, D. M., Rogers, J. G., Brown, G. K. |
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| Jazyk: | angličtina |
| Rok vydání: | 1992 |
| Předmět: |
Adult
Male Recombination Genetic Heterozygote X Chromosome Adolescent Base Sequence Genetic Linkage Immunoblotting Molecular Sequence Data Brain Infant Pyruvate Dehydrogenase Complex Fibroblasts Polymerase Chain Reaction Dosage Compensation Genetic Intellectual Disability Mutation Humans Female Pyruvate Dehydrogenase (Lipoamide) Pyruvate Dehydrogenase Complex Deficiency Disease |
| Zdroj: | Dahl, H H, Hansen, L L, Brown, R M, Danks, D M, Rogers, J G & Brown, G K 1992, ' X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation ' Journal of Inherited Metabolic Disease, vol. 15, no. 6, pp. 835-47 . Aarhus University |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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