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Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
Goffart, Steffi; Cooper, Helen M; Tyynismaa, Henna; Wanrooij, Sjoerd; Suomalainen, Anu; Spelbrink, Johannes N.
Affiliation
  • Goffart S; Institute of Medical Technology and Tampere University Hospital, Biokatu 6, 33014, Tampere, Finland.
Hum Mol Genet ; 18(2): 328-40, 2009 Jan 15.
Article in En | MEDLINE | ID: mdl-18971204
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Ophthalmoplegia, Chronic Progressive External / DNA Helicases / DNA Replication / Mutation Type of study: Risk_factors_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2009 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA, Mitochondrial / Ophthalmoplegia, Chronic Progressive External / DNA Helicases / DNA Replication / Mutation Type of study: Risk_factors_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: