Megalin–deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice

In man, mutations of the megalin-encoding gene causes the rare Donnai-Barrow/Facio-Oculo-Acoustico-Renal Syndrome, which is partially characterized by high-grade myopia. Previous studies of renal megalin function have established that megalin is crucial for conservation of renal filtered nutrients i...

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Detalles Bibliográficos
Autores principales: Storm, Tina, Heegaard, Steffen, Christensen, Erik I., Nielsen, Rikke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186978/
https://www.ncbi.nlm.nih.gov/pubmed/24980834
http://dx.doi.org/10.1007/s00441-014-1919-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4186978/
https://www.ncbi.nlm.nih.gov/pubmed/24980834
http://dx.doi.org/10.1007/s00441-014-1919-4

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