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Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family

AIM: A previous study showed that individuals of Japanese descent affected by early onset familial Paget's disease of bone (PDB) carried a 27-bp duplication at position 75 (75dup27) in the TNFRSF11A gene encoding RANK. Here we report the identification of a novel mutation (78dup27) in exon 1 of...

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Autori principali: Ke, Yao-hua, Yue, Hua, He, Jin-wei, Liu, Yu-juan, Zhang, Zhen-lin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4006681/
https://ncbi.nlm.nih.gov/pubmed/19578385
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/aps.2009.90
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