Associated Papers
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Quintana E et al.
Clinical Genetics, 2010
Expression of normal and mutant pyruvate dehydrogenase complex E1 alpha cDNAs in cultured human lymphoblasts.
Chun K et al.
Archives of Biochemistry and Biophysics, 1998
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Chun K et al.
American Journal of Human Genetics, 1995
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
Chun K et al.
Human Molecular Genetics, 1993
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