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A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect
Objective: To investigate the role of GDAP1 mutations in causing autosomal recessive neuropathies in an Italian population. Methods and results: 76 patients with severe early onset polyneuropathy and possible autosomal recessive inheritance were screened for mutations. A T>G transversion (c.347 T...
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| Główni autorzy: | , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Group
2004
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1738732/ https://ncbi.nlm.nih.gov/pubmed/15377708 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2003.028100 |
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