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Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease
Menkes disease (MD) is a rare and often lethal X-linked recessive syndrome, characterized by generalized alterations in copper transport and metabolism, linked to mutations in the ATPase copper transporting α (ATP7A) gene. Our objective was to identify genomic alterations and circulating proteomic p...
Autores principales: | Martinez-Fierro, Margarita L., Cabral-Pacheco, Griselda A., Garza-Veloz, Idalia, Acuña-Quiñones, Jesus, Martinez-de-Villarreal, Laura E., Ibarra-Ramirez, Marisol, Beuten, Joke, Sanchez-Guerrero, Samantha E., Villarreal-Martinez, Laura, Delgado-Enciso, Ivan, Rodriguez-Sanchez, Iram P., Zuñiga-Ramirez, Vania Z., Cardenas-Vargas, Edith, Romero-Diaz, Viktor |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8156642/ https://www.ncbi.nlm.nih.gov/pubmed/34069220 http://dx.doi.org/10.3390/genes12050744 |
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