Mutation-specific effects in germline transmission of pathogenic mtDNA variants-Reference-Cited by-同舟云学术

Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Published:2018-05-30 Issue:7 Volume:33 Page:1331-1341
ISSN:0268-1161
Container-title:Human Reproduction
language:en
Short-container-title:

Author:

Otten Auke B C¹^ORCID,Sallevelt Suzanne C E H²^ORCID,Carling Phillippa J³,Dreesen Joseph C F M²,Drüsedau Marion²,Spierts Sabine²,Paulussen Aimee D C²,de Die-Smulders Christine E M²,Herbert Mary⁴,Chinnery Patrick F⁵⁶,Samuels David C⁷,Lindsey Patrick¹,Smeets Hubert J M¹

Affiliation:

1. Department of Genetics and Cell Biology, School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, the Netherlands

2. Department of Clinical Genetics, Maastricht University Medical Centre+ (MUMC+), Maastricht, the Netherlands

3. Department of Neuroscience, Sheffield institute for translational neuroscience (SITraN), University of Sheffield, Sheffield, UK

4. Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK

5. Department of Clinical Neuroscience, School of Clinical Medicine, University of Cambridge, Cambridge, UK

6. Medical Research Council Mitochondrial Biology Unit, Cambridge, Biomedical Campus, Cambridge, UK

7. Department of Molecular Physiology and Biophysics, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA

Funder

GROW-School of Oncology and Developmental Biology

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynaecology,Rehabilitation,Reproductive Medicine

Link

http://academic.oup.com/humrep/article-pdf/33/7/1331/25070950/dey114.pdf

Reference75 articles.

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2. Prenatal diagnosis of T8993G mitochondrial DNA point mutation in amniocytes by heteroplasmy detection;Bartley;Am J Hum Genet,1996

3. Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes;Blok;Am J Hum Genet,1997

4. Random genetic drift determines the level of mutant mtDNA in human primary oocytes;Brown;Am J Hum Genet,2001

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