Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity

BACKGROUND: SLIT2 is a protein ligand for the Roundabout (ROBO) receptor and was found to play a major role in repulsive midline axon guidance in central nervous system development. Based on studies utilizing knockout models, it has been postulated that SLIT2 is important for preventing inappropriat...

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Detalles Bibliográficos
Autores principales: Liu, Katherine Y., Sengillo, Jesse D., Velez, Gabriel, Jauregui, Ruben, Sakai, Lynn Y., Maumenee, Irene H., Bassuk, Alexander G., Mahajan, Vinit B., Tsang, Stephen H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094464/
https://www.ncbi.nlm.nih.gov/pubmed/30111362
http://dx.doi.org/10.1186/s13023-018-0885-4

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