Φορτώνει......
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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
|---|---|
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Group
2006
|
| Θέματα: | |
| Διαθέσιμο 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 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|