Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.

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Dahl HH, Brown GK

Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.

Hum Mutat. 1994;3(2):152-5.

PubMed ID
8199595 [ View in PubMed
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Polypeptides
NameUniProt ID
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialP08559Details