Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease-Reference-Cited by-同舟云学术

Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Published:2013-08-14 Issue:9 Volume:34 Page:1260-1268
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Blakely Emma L.¹,Yarham John W.¹,Alston Charlotte L.¹,Craig Kate¹,Poulton Joanna²,Brierley Charlotte³,Park Soo‐Mi⁴,Dean Andrew⁵,Xuereb John H.⁵,Anderson Kirstie N.⁶,Compston Alistair⁷,Allen Chris⁸,Sharif Saba⁹,Enevoldson Peter¹⁰,Wilson Martin¹⁰,Hammans Simon R.¹¹,Turnbull Douglass M.¹,McFarland Robert¹,Taylor Robert W.¹

Affiliation:

1. Wellcome Trust Centre for Mitochondrial Research Institute for Ageing and Health, Newcastle University Newcastle upon Tyne UK

2. Nuffield Department of Obstetrics and Gynaecology University of Oxford Oxford UK

3. Department of Neurology The West Suffolk Hospital, Bury St Edmunds Suffolk UK

4. Department of Clinical Genetics, East Anglian Medical Genetics Service Addenbrooke's Hospital Cambridge UK

5. Department of Pathology University of Cambridge Cambridge UK

6. Department of Neurology Royal Victoria Infirmary Newcastle upon Tyne UK

7. Department of Clinical Neurosciences University of Cambridge Cambridge UK

8. Department of Neurology Addenbrooke's Hospital Cambridge UK

9. West Midlands Regional Clinical Genetics Unit Birmingham Women's NHS Foundation Trust Birmingham UK

10. The Walton Centre NHS Foundation Trust Liverpool UK

11. Wessex Neurological Centre University Hospitals Southampton Southampton UK

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22358

Reference42 articles.

1. Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

2. Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases

3. Mutations in mtDNA: Are We Scraping the Bottom of the Barrel?

4. Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why?

5. Toward a mtDNA locus-specific mutation database using the LOVD platform

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