A novel missense mutation inLIM2causing isolated autosomal dominant congenital cataract-Reference-Cited by-同舟云学术

A novel missense mutation inLIM2causing isolated autosomal dominant congenital cataract

Published:2020-03-03 Issue:2 Volume:41 Page:131-134
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Berry Vanita¹^ORCID,Pontikos Nikolas¹²^ORCID,Dudakova Lubica³,Moore Anthony T.¹⁴,Quinlan Roy⁵,Liskova Petra³⁶,Michaelides Michel¹²

Affiliation:

1. UCL Institute of Ophthalmology, University College London, London, UK

2. Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, UK

3. Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic

4. Ophthalmology Department, University of California School of Medicine, San Francisco, California, USA

5. School of Biological and Medical Sciences, University of Durham, Durham, UK

6. Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1737950

Reference14 articles.

1. MP17, a fiber-specific intrinsic membrane protein from mammalian eye lens

2. Structural Arrangement of Lens Fiber Cell Plasma Membrane Protein MP20

3. Identification of an 18,000-Dalton Protein in Mammalian Lens Fiber Cell Membranes

4. Epithelial Membrane Protein-1, Peripheral Myelin Protein 22, and Lens Membrane Protein 20 Define a Novel Gene Family

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