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Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene
1995
W. Lissens
Isabelle Desguerre
Chantal Benelli
C. Marsac
Françoise Fouque
Charles Haenggell
G. Ponsot
Sara Seneca
Inge Liebaers
Linda De Meirleir
Keywords:
Lactic acid
Pyruvate dehydrogenase deficiency
Enzyme
Acidosis
Exon
Genetics
Mutation
Metabolic acidosis
Biochemistry
Biology
Metabolic disorder
Molecular biology
Gene
Base pair
X chromosome
Correction
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