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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Detalles Bibliográficos
Autores principales: Yang, Yuan, Zhou, Ya-li, Yao, Teng-teng, Pan, Hui, Gu, Ping, Wang, Zhao-yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Clinical Science
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

Internet

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

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