Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness-Reference-Cited by-同舟云学术

Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness

Published:2019-03-04 Issue:2 Volume:40 Page:182-184
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Tourville Aurore¹,Michiels Christelle¹,Condroyer Christel¹,Meunier Audrey²,Cordonnier Monique³,Sahel José-Alain¹⁴⁵⁶⁷,Audo Isabelle¹⁴⁸,Abramowicz Marc⁹,Zeitz Christina¹

Affiliation:

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

2. Department of Ophthalmology, Centre Hospitalier Universitaire Saint-Pierre, Brussels, Belgium

3. Service d’ophtalmologie, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium

4. CHNO des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France

5. Fondation Ophtalmologique Adolphe de Rothschild, Paris, France

6. Academie des Sciences, Institut de France, Paris, France

7. Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

8. Institute of Ophthalmology, University College of London, London, UK

9. Service de Génétique, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium

Funder

French state funds managed by the Agence Nationale de la Recherche within the Investissements d’Avenir program

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1605389

Reference10 articles.

1. Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

2. Beitrag zur Analyse des menschlichen Elektroretinogramms

3. Congenital Stationary Night Blindness With Negative Electroretinogram

4. ISCEV Standard for full-field clinical electroretinography (2015 update)

5. Congenital stationary night blindness: Report of an autosomal recessive family and linkage analysis

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