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Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease
BACKGROUND: X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. METHODS: We describe two novel mutations in the connexin32 gene in two Norwegian families. RESULTS: Family 1 had a c.22...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1999495/ https://ncbi.nlm.nih.gov/pubmed/17620124 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-7-19 |
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