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...

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Detalles Bibliográficos
Autores principales: Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
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

Internet

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

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