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The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia
Impairment of the tightly regulated ossification process leads to a wide range of skeletal dysplasias and deciphering their molecular bases has contributed to the understanding of this complex process. Here, we report a homozygous mutation in the mitochondria-associated granulocyte macrophage colony...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006740/ https://www.ncbi.nlm.nih.gov/pubmed/24786642 http://dx.doi.org/10.1371/journal.pgen.1004311 |