Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Quintana, E
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. [electronic resource] - Clinical genetics May 2010 - 474-82 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/j.1399-0004.2009.01313.x doi
Blotting, Western
Case-Control Studies
DNA Mutational Analysis
Female
Haplotypes--genetics
Humans
Male
Mutation--genetics
Patient Selection
Polymorphism, Single Nucleotide--genetics
Pyruvate Dehydrogenase (Lipoamide)--genetics
Pyruvate Dehydrogenase Complex Deficiency Disease--enzymology
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. [electronic resource] - Clinical genetics May 2010 - 474-82 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1399-0004
10.1111/j.1399-0004.2009.01313.x doi
Blotting, Western
Case-Control Studies
DNA Mutational Analysis
Female
Haplotypes--genetics
Humans
Male
Mutation--genetics
Patient Selection
Polymorphism, Single Nucleotide--genetics
Pyruvate Dehydrogenase (Lipoamide)--genetics
Pyruvate Dehydrogenase Complex Deficiency Disease--enzymology