Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance-Reference-Cited by-同舟云学术

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Published:2021-01-03 Issue:3 Volume:42 Page:310-319
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Stenton Sarah L.¹²,Piekutowska‐Abramczuk Dorota³,Kulterer Lea¹²,Kopajtich Robert¹²,Claeys Kristl G.⁴⁵,Ciara Elżbieta³,Eisen Johannes⁶,Płoski Rafał⁷^ORCID,Pronicka Ewa³,Malczyk Katarzyna⁸,Wagner Matias¹²,Wortmann Saskia B.¹²⁹¹⁰,Prokisch Holger¹²^ORCID

Affiliation:

1. Institute of Human Genetics Technische Universität München Munich Germany

2. Helmholtz Zentrum München Institute of Neurogenomics Munich Germany

3. Department of Medical Genetics Children's Memorial Health Institute (CMHI) Warsaw Warsaw Poland

4. Department of Neurology University Hospitals Leuven Leuven Belgium

5. Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences KU Leuven Leuven Belgium

6. Klinikum Frankfurt Höchst Frankfurt Germany

7. Department of Medical Genetics Medical University of Warsaw Warsaw Poland

8. Department of Diagnostic Imaging Children's Memorial Health Institute (CMHI) Warsaw Warsaw Poland

9. Department of Pediatrics Salzburger Landeskliniken and Paracelsus Medical University Salzburg Austria

10. Radboud Centre for Mitochondrial Diseases (RCMM) Amalia Children's Hospital, Radboudumc Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24160

Reference27 articles.

1. A method and server for predicting damaging missense mutations

2. Mammalian Fe–S cluster biogenesis and its implication in disease

3. Diabetes in Friedreich Ataxia

4. Iron‐sulfur cluster ISD11 deficiency ( LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria

5. Adrenodoxin: The archetype of vertebrate-type [2Fe–2S] cluster ferredoxins

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