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Exploring Genetic Modifiers of Gaucher Disease: The Next Horizon
Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from mutations in the gene GBA1 that lead to a deficiency in the enzyme glucocerebrosidase. Accumulation of the enzyme’s substrates, glucosylceramide and glucosylsphingosine, result in symptoms ranging from skeletal and v...
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| Publicado en: | Hum Mutat |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6240360/ https://ncbi.nlm.nih.gov/pubmed/30098107 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23611 |
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