Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.

A 7-bp deletion in the X-chromosomal pyruvate dehydrogenase (PDH) E1 alpha gene was characterized in a female patient with the "cerebral" form of PDH deficiency. The mutation was localized using the chemical cleavage method and further characterized by application of the polymerase chain r...

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Detaylı Bibliyografya
Asıl Yazarlar: Dahl, H H, Maragos, C, Brown, R M, Hansen, L L, Brown, G K
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1990
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683706/
https://ncbi.nlm.nih.gov/pubmed/2378353
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