Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP

Variants in MCM3AP, encoding the germinal-centre associated nuclear protein, have been associated with progressive polyneuropathy with or without intellectual disability and ptosis in some cases, and with a complex phenotype with immunodeficiency, skin changes and myelodysplasia. MCM3AP encoded prot...

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Detalles Bibliográficos
Autores principales: Sedghi, Maryam, Moslemi, Ali-Reza, Cabrera-Serrano, Macarena, Ansari, Behnaz, Ghasemi, Majid, Baktashian, Mojtaba, Fattahpour, Ali, Tajsharghi, Homa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425404/
https://www.ncbi.nlm.nih.gov/pubmed/32954258
http://dx.doi.org/10.1093/braincomms/fcz011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425404/
https://www.ncbi.nlm.nih.gov/pubmed/32954258
http://dx.doi.org/10.1093/braincomms/fcz011

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