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Matches in SemOpenAlex for { <https://semopenalex.org/work/W1994702496> ?p ?o ?g. }

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• W1994702496 abstract "Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1α subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a male patient who had a milder phenotype." @default.
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• W1994702496 date "2010-07-01" @default.
• W1994702496 modified "2023-09-25" @default.
• W1994702496 title "Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency" @default.
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• W1994702496 doi "https://doi.org/10.1016/j.ymgme.2010.04.004" @default.
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