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Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Human pyruvate dehydrogenase (PDH)-complex deficiency is an inborn error of metabolism that is extremely heterogeneous in its presentation and clinical course. In a study of 14 patients (7 females and 7 males), we have found a mutation in the coding region of the E1 alpha gene in all 14 patients. Tw...

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Autori principali: Chun, K, MacKay, N, Petrova-Benedict, R, Federico, A, Fois, A, Cole, D E, Robertson, E, Robinson, B H
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801155/
https://ncbi.nlm.nih.gov/pubmed/7887409
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