PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report
BackgroundPyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels, and hyperammonemia. The pyruvate carboxylase (...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-04-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |