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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...
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| Publicado no: | Br J Ophthalmol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7907564/ https://ncbi.nlm.nih.gov/pubmed/32404357 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2019-315265 |
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