Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.

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Hemalatha SG, Kerr DS, Wexler ID, Lusk MM, Kaung M, Du Y, Kolli M, Schelper RL, Patel MS

Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.

Hum Mol Genet. 1995 Feb;4(2):315-8.

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7757088 [ View in PubMed
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Polypeptides
NameUniProt ID
Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrialP08559Details