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Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes of CMT leading to improved diagnostics and understanding of pathophysiological...
Gorde:
| Argitaratua izan da: | BMC Med Genet |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BioMed Central
2020
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7050135/ https://ncbi.nlm.nih.gov/pubmed/32122354 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0984-7 |
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