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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Gert Van Goethem, Bart Dermaut UGent, Ann Löfgren, Jean-Jacques Martin and Christine Van Broeckhoven (2001) NATURE GENETICS. 28(3). p.211-212
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
MULTIPLE DELETIONS, MITOCHONDRIAL-DNA POLYMERASE, REPLICATION, DISORDER, GAMMA, GENE
journal title
NATURE GENETICS
Nature Genet.
volume
28
issue
3
pages
211 - 212
Web of Science type
Article
Web of Science id
000169656400008
JCR category
GENETICS & HEREDITY
JCR impact factor
29.6 (2001)
JCR rank
1/112 (2001)
JCR quartile
1 (2001)
ISSN
1061-4036
DOI
10.1038/90034
language
English
UGent publication?
no
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
3201079
handle
http://hdl.handle.net/1854/LU-3201079
date created
2013-04-24 15:08:59
date last changed
2016-12-19 15:45:59
@article{3201079,
  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.},
  author       = {Van Goethem, Gert and Dermaut, Bart and L{\"o}fgren, Ann and Martin, Jean-Jacques and Van Broeckhoven, Christine},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  keyword      = {MULTIPLE DELETIONS,MITOCHONDRIAL-DNA POLYMERASE,REPLICATION,DISORDER,GAMMA,GENE},
  language     = {eng},
  number       = {3},
  pages        = {211--212},
  title        = {Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions},
  url          = {http://dx.doi.org/10.1038/90034},
  volume       = {28},
  year         = {2001},
}

Chicago
Van Goethem, Gert, Bart Dermaut, Ann Löfgren, Jean-Jacques Martin, and Christine Van Broeckhoven. 2001. “Mutation of POLG Is Associated with Progressive External Ophthalmoplegia Characterized by mtDNA Deletions.” Nature Genetics 28 (3): 211–212.
APA
Van Goethem, Gert, Dermaut, B., Löfgren, A., Martin, J.-J., & Van Broeckhoven, C. (2001). Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. NATURE GENETICS, 28(3), 211–212.
Vancouver
1.
Van Goethem G, Dermaut B, Löfgren A, Martin J-J, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. NATURE GENETICS. 2001;28(3):211–2.
MLA
Van Goethem, Gert, Bart Dermaut, Ann Löfgren, et al. “Mutation of POLG Is Associated with Progressive External Ophthalmoplegia Characterized by mtDNA Deletions.” NATURE GENETICS 28.3 (2001): 211–212. Print.