A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review
IntroductionMalonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan.MethodsWe collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We u...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-04-01T00:00:00Z.
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