تحميل...
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1
Charcot–Marie–Tooth disease (CMT) is a group of hereditary peripheral neuropathies. The dominantly inherited axonal CMT2 displays striking genetic heterogeneity, with 17 presently known disease genes. The large number of candidate genes, combined with lack of genotype–phenotype correlations, has mad...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Nature Publishing Group
2014
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3953916/ https://ncbi.nlm.nih.gov/pubmed/23963299 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.190 |
| الوسوم: |
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