(Q34311166)
Statements
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Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit (English)
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Hemalatha SG
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Kerr DS
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Wexler ID
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Lusk MM
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Kaung M
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Du Y
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Kolli M
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Schelper RL
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Patel MS
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1 February 1995
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315-318
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Identifiers
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