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A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive featu...
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| Autori principali: | , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
1999
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1377901/ https://ncbi.nlm.nih.gov/pubmed/10330345 |
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