| First Author | Brown RM | Year | 1989 |
| Journal | Genomics | Volume | 4 |
| Issue | 2 | Pages | 174-81 |
| PubMed ID | 2737678 | Mgi Jnum | J:9848 |
| Mgi Id | MGI:58305 | Doi | 10.1016/0888-7543(89)90297-8 |
| Citation | Brown RM, et al. (1989) X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex. Genomics 4(2):174-81 |
| abstractText | The functional gene locus for the E1 alpha subunit of the human pyruvate dehydrogenase complex has been localized to the p22.1-22.2 region of the X chromosome by in situ hybridization and analysis of somatic cell hybrids with various human X-chromosome rearrangements. Another locus showing significant cross-hybridization with an E1 alpha cDNA probe was detected on chromosome 4, in the region q22. The X-chromosome localization of the pyruvate dehydrogenase E1 alpha subunit gene provides a number of possible explanations for the clinical and biochemical variability which is a major feature of human pyruvate dehydrogenase deficiency. |
