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- aggregation classification "A1".
- aggregation creator B604482.
- aggregation creator B604483.
- aggregation creator B604484.
- aggregation creator B604485.
- aggregation creator person.
- aggregation date "2001".
- aggregation format "application/pdf".
- aggregation hasFormat 3201079.bibtex.
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- aggregation isPartOf urn:issn:1061-4036.
- aggregation language "eng".
- aggregation rights "I have transferred the copyright for this publication to the publisher".
- aggregation subject "Biology and Life Sciences".
- aggregation title "Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions".
- aggregation abstract "Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in a Belgian pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of the mtDNA polymerase gamma (POLG). We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families. POLG is the only DNA polymerase responsible for mtDNA replication.".
- aggregation authorList BK959739.
- aggregation endPage "212".
- aggregation issue "3".
- aggregation startPage "211".
- aggregation volume "28".
- aggregation aggregates 3205687.
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- aggregation similarTo 90034.
- aggregation similarTo LU-3201079.