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Functional and Structural Analysis of Rare SLC2A2 Variants Associated with Fanconi-Bickel Syndrome and Metabolic Traits
Deleterious variants in SLC2A2 cause Fanconi-Bickel Syndrome (FBS), a glycogen storage disorder, whereas less common variants in SLC2A2 associate with numerous metabolic diseases. Phenotypic heterogeneity in FBS has been observed, but its causes remain unknown. Our goal was to functionally character...
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| Publicat a: | Hum Mutat |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7137536/ https://ncbi.nlm.nih.gov/pubmed/30950137 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23758 |
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