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2001 | 1 |
2016 | 1 |
2024 | 0 |
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Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease.
J Lipid Res. 2001 Jul;42(7):1033-40.
J Lipid Res. 2001.
PMID: 11441129
Free article.
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Vega AI, Medrano C, Navarrete R, Desviat LR, Merinero B, Rodríguez-Pombo P, Vitoria I, Ugarte M, Pérez-Cerdá C, Pérez B.
Vega AI, et al.
Genet Med. 2016 Oct;18(10):1037-43. doi: 10.1038/gim.2015.217. Epub 2016 Feb 25.
Genet Med. 2016.
PMID: 26913919
Free article.
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