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Gaucher disease: when molecular testing and clinical presentation disagree-the novel c.1226A>G(p.N370S)–RecNcil allele
We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid β-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typi...
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| Main Authors: | , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3269069/ https://ncbi.nlm.nih.gov/pubmed/21431620 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9307-7 |
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