A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations

BACKGROUND: Jalili syndrome (JS) is a rare cone‐rod dystrophy (CRD) associated with amelogenesis imperfecta (AI). The first clinical presentation of JS patients was published in 1988 by Jalili and Smith. Pathogenic mutations in the Cyclin and CBS Domain Divalent Metal Cation Transport Mediator 4 (CN...

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Detalles Bibliográficos
Autores principales: Parveen, Asia, Mirza, Muhammad U., Vanmeert, Michiel, Akhtar, Javed, Bashir, Hina, Khan, Saadullah, Shehzad, Saqib, Froeyen, Matheus, Ahmed, Wasim, Ansar, Muhammad, Wasif, Naveed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732295/
https://www.ncbi.nlm.nih.gov/pubmed/31347285
http://dx.doi.org/10.1002/mgg3.902

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732295/
https://www.ncbi.nlm.nih.gov/pubmed/31347285
http://dx.doi.org/10.1002/mgg3.902

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