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 E1α subunit immunostaining; however, initial screening of cDNA and the exons and int...
| Main Authors: | , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Springer
2008
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| Subjects: |