Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy
Abstract Background The aim of this study was to identify the underlying genetic defect in a family segregating autosomal recessive asymmetric hereditary motor neuropathy (HMN). Asymmetric HMN has not been associated earlier with SORD mutations. Methods For this study, we have recruited a family and...
محفوظ في:
| المؤلفون الرئيسيون: | , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
BMC
2022-04-01
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| سلاسل: | BMC Medical Genomics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://doi.org/10.1186/s12920-022-01238-4 |
| الوسوم: |
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