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Journal article

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

Abstract:

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 intron-exon boundaries yielded only normal sequence, apart from a heterozygous 4 bp insertion in intron 10. This was considered to be a polymorphism as it is also present in her unaffected mother ...

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Publication status:
Published

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Publisher copy:
10.1007/s00439-008-0538-0

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Institution:
University of Oxford
Division:
MSD
Department:
Biochemistry
Role:
Author
Journal:
Human genetics More from this journal
Volume:
124
Issue:
2
Pages:
187-193
Publication date:
2008-09-01
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
Language:
English
Keywords:
Pubs id:
pubs:100350
UUID:
uuid:f90faa1f-5110-49e2-aa45-3af090c919f4
Local pid:
pubs:100350
Source identifiers:
100350
Deposit date:
2012-12-19

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