Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts. [electronic resource]
- The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society Jul 2002
- 877-84 p. digital
Publication Type: Journal Article
0022-1554
10.1177/002215540205000701 doi
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