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DNA methylation impact on Fabry disease
BACKGROUND: Fabry disease (FD) is a rare X-linked disease caused by mutations in GLA gene with consequent lysosomal accumulation of globotriaosylceramide (Gb3). Women with FD often show highly heterogeneous symptoms that can manifest from mild to severe phenotype. MAIN BODY: The phenotypic variabili...
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| 出版年: | Clin Epigenetics |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2021
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7852133/ https://ncbi.nlm.nih.gov/pubmed/33531072 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13148-021-01019-3 |
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