The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sorsby fundus dystrophy (SFD) is a macular degeneration caused by mutations in TIMP3, the majority of which introduce a novel cysteine. However, the exact molecular mechanisms underlying SFD remain unknown. We aimed to provide novel insights into the functional consequences of a distinct N‐terminal...

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Detalles Bibliográficos
Autores principales: Naessens, Sarah, De Zaeytijd, Julie, Syx, Delfien, Vandenbroucke, Roosmarijn E., Smeets, Frédéric, Van Cauwenbergh, Caroline, Leroy, Bart P., Peelman, Frank, Coppieters, Frauke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594137/
https://www.ncbi.nlm.nih.gov/pubmed/30668888
http://dx.doi.org/10.1002/humu.23713

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6594137/
https://www.ncbi.nlm.nih.gov/pubmed/30668888
http://dx.doi.org/10.1002/humu.23713

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