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Next-generation sequencing and high-throughput enzymolome-b..:
del Castillo, Francisco J.
;
Domínguez-Ruiz, María
;
Hammoud, Miloud
...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107072 , 2023
Link:
https://doi.org/10.1016/j.ymgme.2022.107072
RT Journal T1
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?
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ymgme.2022.107072&Exemplar=1&LAN=DE A1 del Castillo, Francisco J. A1 Domínguez-Ruiz, María A1 Hammoud, Miloud A1 Ortiz-Galeana, Magdalena A. A1 Assiri, Imane A1 Piris-Villaespesa, Miguel A1 Carrillo-Farga, Joaquín A1 Fdil, Naima A1 Jenkins, Robert A1 Ferrer, Manuel A1 Espinosa, Jesus Villarrubia PB Elsevier BV YR 2023 SN 1096-7192 JF Molecular Genetics and Metabolism VO 138 IS 2 SP 107072 LK http://dx.doi.org/https://doi.org/10.1016/j.ymgme.2022.107072 DO https://doi.org/10.1016/j.ymgme.2022.107072 SF ELIB - SuUB Bremen
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