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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2019
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| Materias: | |
| 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 |