Next-generation sequencing and high-throughput enzymolome-based panel screening of suspected lysosomal disease cases identifies multiple disease-causing variants in two genes underlying different lysosomal diseases: A source of clinical and metabolic variability?

Autor:	Francisco J. del Castillo, María Domínguez-Ruiz, Miloud Hammoud, Magdalena A. Ortiz-Galeana, Imane Assiri, Miguel Piris-Villaespesa, Joaquín Carrillo-Farga, Naima Fdil, Robert Jenkins, Manuel Ferrer, Jesus Villarrubia Espinosa
Rok vydání:	2023
Předmět:	Endocrinology Endocrinology Diabetes and Metabolism Genetics Molecular Biology Biochemistry
Zdroj:	Molecular Genetics and Metabolism. 138:107072
ISSN:	1096-7192
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::2aac5823f931ac9b969aac50f691b1cd https://doi.org/10.1016/j.ymgme.2022.107072 Zobrazit plný text záznamu Full Text from ScienceDirect