Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

Hansen, L L

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. [electronic resource] - Journal of inherited metabolic disease 1991 - 140-51 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0141-8955

10.1007/BF01800586 doi


Amino Acid Sequence
Base Sequence
DNA--genetics
Female
Humans
Immunoblotting
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Pyruvate Dehydrogenase Complex--genetics
Pyruvate Dehydrogenase Complex Deficiency Disease
X Chromosome