Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease

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 (<i>ATP7A</i>) gene. Our objective was to identify genomic alterations and circ...

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Main Authors: Margarita L. Martinez-Fierro, Griselda A. Cabral-Pacheco, Idalia Garza-Veloz, Jesus Acuña-Quiñones, Laura E. Martinez-de-Villarreal, Marisol Ibarra-Ramirez, Joke Beuten, Samantha E. Sanchez-Guerrero, Laura Villarreal-Martinez, Ivan Delgado-Enciso, Iram P. Rodriguez-Sanchez, Vania Z. Zuñiga-Ramirez, Edith Cardenas-Vargas, Viktor Romero-Diaz
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
Menkes disease
silvery hair syndrome
rare disease
exome sequencing
hypopigmentary disorder
Online Access:https://www.mdpi.com/2073-4425/12/5/744

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