CHMmutation spectrum and disease: An update at the time of human therapeutic trials-Reference-Cited by-同舟云学术

CHMmutation spectrum and disease: An update at the time of human therapeutic trials

Published:2021-02-19 Issue:4 Volume:42 Page:323-341
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zeitz Christina¹^ORCID,Nassisi Marco¹^ORCID,Laurent‐Coriat Caroline²,Andrieu Camille²,Boyard Fiona¹,Condroyer Christel¹,Démontant Vanessa¹,Antonio Aline¹,Lancelot Marie‐Elise¹,Frederiksen Helen¹,Kloeckener‐Gruissem Barbara³⁴,El‐Shamieh Said¹⁵^ORCID,Zanlonghi Xavier⁶,Meunier Isabelle⁷⁸^ORCID,Roux Anne‐Françoise⁹,Mohand‐Saïd Saddek¹²,Sahel José‐Alain¹²¹⁰¹¹¹²^ORCID,Audo Isabelle¹²¹³^ORCID

Affiliation:

1. Sorbonne Université, INSERM, CNRS, Institut de la Vision Paris France

2. CHNO des Quinze‐Vingts, DHU Sight Restore INSERM‐DHOS CIC1423 Paris France

3. Institute of Medical Molecular Genetics University of Zurich Schlieren Switzerland

4. Department of Biology ETH Zurich Zurich Switzerland

5. Department of Medical Laboratory Technology, Faculty of Health Sciences Beirut Arab University Beirut Lebanon

6. Clinique Pluridisciplinaire Jules Verne Institut Ophtalmologique de l'Ouest Nantes France

7. National Reference Centre for Inherited Sensory Diseases University of Montpellier, Montpellier University Hospital Montpellier France

8. Institute for Neurosciences of Montpellier (INM) University of Montpellier, INSERM Montpellier France

9. Laboratoire de Génétique Moléculaire CHU de Montpellier, Université de Montpellier Montpellier France

10. Fondation Ophtalmologique Adolphe de Rothschild Paris France

11. Académie des Sciences–Institut de France Paris France

12. Department of Ophthalmology The University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USA

13. Department of Genetics UCL‐Institute of Ophthalmology London UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24174

Reference169 articles.

1. Identifying characteristic features of the retinal and choroidal vasculature in choroideremia using optical coherence tomography angiography

2. A method and server for predicting damaging missense mutations

3. OPTICAL COHERENCE TOMOGRAPHY FEATURES OF X-LINKED CHOROIDEREMIA

4. Natural History of the Central Structural Abnormalities in Choroideremia

5. SCLERAL PITS IN CHOROIDEREMIA

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