Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Somatic mosaicism for a mutation in the X-linked PDHA1 gene was found in a girl who presented with manifestations of pyruvate dehydrogenase deficiency. Mutation in the PDHA1 gene was suggested by a mosaic pattern of E1alpha subunit immunostaining; however, initial screening of cDNA and the exons and...

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Autors principals: Ridout, C, Brown, R, Walter, J, Brown, G
Format: Journal article
Idioma:English
Publicat: 2008