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Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.

A 20-bp deletion in the last exon of the pyruvate dehydrogenase (PDH) E1 alpha gene was found in a severely affected female patient diagnosed with PDH deficiency. PDH-complex activity in the patient's fibroblasts was 22% of that in normal controls. The mutation was characterized using PCR techn...

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Bibliographic Details
Main Authors: Chun, K, MacKay, N, Petrova-Benedict, R, Robinson, B H
Format: Artigo
Language:Inglês
Published: 1991
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683296/
https://ncbi.nlm.nih.gov/pubmed/1907799
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