An Overview of the Genetics of <i>ABCA4</i> Retinopathies, an Evolving Story
Stargardt disease (STGD1) and <i>ABCA4</i> retinopathies (ABCA4R) are caused by pathogenic variants in the <i>ABCA4</i> gene inherited in an autosomal recessive manner. The gene encodes an importer flippase protein that prevents the build-up of vitamin A derivatives that are...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-08-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/12/8/1241 |