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...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8156642/
https://ncbi.nlm.nih.gov/pubmed/34069220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12050744
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