Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10-Reference-Cited by-同舟云学术

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

Published:2020-11-11 Issue:1 Volume:42 Page:19-24
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Helman Guy¹²^ORCID,Compton Alison G.¹³^ORCID,Hock Daniella H.⁴^ORCID,Walkiewicz Marzena¹,Brett Gemma R.³⁵^ORCID,Pais Lynn⁶,Tan Tiong Y.¹³⁵^ORCID,De Paoli‐Iseppi Ricardo⁷^ORCID,Clark Michael B.⁷^ORCID,Christodoulou John¹³⁵^ORCID,White Susan M.³⁵,Thorburn David R.¹³⁵^ORCID,Stroud David A.⁴^ORCID,Stark Zornitza³⁵^ORCID,Simons Cas¹²^ORCID

Affiliation:

1. Murdoch Children's Research Institute Royal Children's Hospital Victoria Australia

2. Institute for Molecular Bioscience The University of Queensland Queensland Australia

3. Department of Paediatrics University of Melbourne Melbourne Victoria Australia

4. Department of Biochemistry and Molecular Biology, Bio21 Molecular Science and Biotechnology Institute University of Melbourne Victoria Australia

5. Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Children's Hospital Victoria Australia

6. Center for Mendelian Genomics Broad Institute of MIT and Harvard Cambridge Massachusetts USA

7. Centre for Stem Cell Systems The University of Melbourne Victoria Australia

Funder

National Human Genome Research Institute

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24135

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