A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma-Reference-Cited by-同舟云学术

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Published:2017-04-17 Issue:13 Volume:26 Page:2515-2525
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Siibak Triinu¹,Clemente Paula²³,Bratic Ana⁴,Bruhn Helene³⁵,Kauppila Timo E.S.⁴,Macao Bertil¹,Schober Florian A.²³,Lesko Nicole³⁵,Wibom Rolf³⁵,Naess Karin³⁵,Nennesmo Inger⁶,Wedell Anna²⁵⁷,Peter Bradley¹,Freyer Christoph²³⁵,Falkenberg Maria¹,Wredenberg Anna²³⁵

Affiliation:

1. Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg SE-405 30, Sweden

2. Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, SE-171 77, Sweden,

3. Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm SE-171 77, Sweden,

4. Department of Mitochondrial Biology, Max Planck Institute for Biology of Ageing, Cologne D-50931, Germany,

5. Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm SE-171 76, Sweden,

6. Department of Pathology, Karolinska University Hospital, SE-171 77 Stockholm, Sweden

7. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm SE-171 76, Sweden

Funder

Swedish Research Council

Stockholm County Council

A.We.

Swedish Foundation for Strategic Research

Knut & Alice Wallenberg Foundation

The Swedish Cancer Foundation

The Swedish Brain Foundation

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/13/2515/24340302/ddx146.pdf

Reference45 articles.

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3. Relaxed and stringent genomes: why cytoplasmic genes don‘t obey Mendel’s laws;Birky;J. Hered,1994

4. Transcription and replication of animal mitochondrial DNAs;Clayton;Int. Rev. Cytol,1992

5. DNA replication and transcription in mammalian mitochondria;Falkenberg;Annu. Rev. Biochem,2007

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