DOI:
10.1055/s-00029027
Journal of Pediatric Genetics
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References
Sperb-Ludwig F, Alegra T, Voltolini R. , et al.
Exome sequencing for mucolipidosis III: detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.
Mol Genet Metab Rep 2014;
2: 34-37
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