Diagnosis of 4 novel cases of adult acid sphyngomielynase...

Molecular Genetics and Metabolism 2020 / 02 Vol. 129; Iss. 2

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

Villarrubia, Jesús, Muñoz, Gloria, Gandía, Marta, Ciubotariu, Crina, Piris-Villaespesa, Miguel, Meijón, Mar, López-Jiménez, Javier, Carrillo-Farga, Joaquín, del Castillo, Francisco J.
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Volume:
129
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2019.11.415
Date:
February, 2020
File:
PDF, 328 KB
2020
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