New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

Author:

Vaclavik Veronika12,Tiab Leila3,Sun Young Joo4,Mahajan Vinit B.45,Moulin Alexandre1,Allaman-Pillet Nathalie3,Munier Francis L.1,Schorderet Daniel F.367

Affiliation:

1. Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland

2. Department of Ophthalmology, Hospital Cantonal, Fribourg, Switzerland

3. Institute for Research in Ophthalmology, Sion, Switzerland

4. Molecular Surgery Laboratory, Byers Eye Institute, Stanford University, Palo Alto, California, United States

5. Veterans Affairs Palo Alto Health Care System, Palo Alto, California, United States

6. Faculty of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland

7. Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference32 articles.

1. Strategies for multilocus linkage analysis in humans;Lathrop;Proc Natl Acad Sci USA,1984

2. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr Protoc Hum Genet,2013

3. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels;Choi;Bioinformatics,2015

4. SIFT web server: predicting effects of amino acid substitutions on proteins;Sim;Nucleic Acids Res,2012

5. Defective collagen VI a6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies;Tagliavini;Biochim Biophys Acta,2014

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