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Novel p.G1344E mutation in FBN1 is associated with ectopia lentis
BACKGROUND: Ectopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibril...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BMJ Publishing Group
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907564/ https://www.ncbi.nlm.nih.gov/pubmed/32404357 http://dx.doi.org/10.1136/bjophthalmol-2019-315265 |