Diagnosis of 4 novel cases of adult acid sphyngomielynase deficiency by screening with next-generation sequencing gene panels

Autor:	Jesús Villarrubia, Marta Gandía, Miguel Piris-Villaespesa, Crina Ciubotariu, Gloria Muñoz, Mar Meijón, Joaquín Carrillo-Farga, Francisco J. del Castillo, Javier López-Jiménez
Rok vydání:	2020
Předmět:	Endocrinology Endocrinology Diabetes and Metabolism Gene panel Genetics Computational biology Biology Molecular Biology Biochemistry DNA sequencing
Zdroj:	Molecular Genetics and Metabolism. 129:S156
ISSN:	1096-7192
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::c3261c8655827bc2da683c27695dda05 https://doi.org/10.1016/j.ymgme.2019.11.415 Zobrazit plný text záznamu Full Text from ScienceDirect