Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish

Microtubule associated protein 11 (MAP11, previously termed C7orf43) encodes a highly conserved protein whose function is unknown. Through genome-wide linkage analysis combined with whole exome sequencing, we demonstrate that human autosomal recessive primary microcephaly is caused by a truncating m...

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Detalles Bibliográficos
Autores principales: Perez, Yonatan, Bar-Yaacov, Reut, Kadir, Rotem, Wormser, Ohad, Shelef, Ilan, Birk, Ohad S, Flusser, Hagit, Birnbaum, Ramon Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391606/
https://www.ncbi.nlm.nih.gov/pubmed/30715179
http://dx.doi.org/10.1093/brain/awz004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391606/
https://www.ncbi.nlm.nih.gov/pubmed/30715179
http://dx.doi.org/10.1093/brain/awz004

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