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Decreased cellular uptake and metabolism in Allan‐Herndon‐Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter
We report a novel 1 bp deletion (c.1834delC) in the MCT8 gene in a large Brazilian family with Allan‐Herndon‐Dudley syndrome (AHDS), an X linked condition characterised by severe mental retardation and neurological dysfunction. The c.1834delC segregates with the disease in this family and it was not...
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| Główni autorzy: | , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BMJ Group
2006
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2649011/ https://ncbi.nlm.nih.gov/pubmed/15980113 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.035840 |
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