Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts. [electronic resource]
Producer: 20020712Description: 877-84 p. digitalISSN:- 0022-1554
- Antibodies, Monoclonal
- Antibody Specificity
- Blotting, Western
- Cell Line
- Female
- Fibroblasts -- enzymology
- Humans
- Immunohistochemistry
- Male
- Mosaicism
- Protein Subunits
- Pyruvate Dehydrogenase (Lipoamide) -- genetics
- Pyruvate Dehydrogenase Complex Deficiency Disease -- diagnosis
- Reproducibility of Results
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Publication Type: Journal Article
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