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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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Maranduba, C M C, Friesema, E C H, Kok, F, Kester, M H A, Jansen, J, Sertié, A L, Passos‐Bueno, M R, Visser, T J
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
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