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Early-Onset Paget’s Disease of Bone in a Mexican Family Caused by a Novel Tandem Duplication (77dup27) in TNFRSF11A that Encodes RANK

Four heterozygous in-frame tandem duplications of different lengths in TNFRSF11A, the gene that encodes receptor activator of nuclear factor κB (RANK), constitutively activate RANK and lead to high turnover skeletal disease. Each duplication elongates the signal peptide of RANK. The 18-base pair (bp...

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Detalhes bibliográficos
Publicado no:Bone
Main Authors: Iwamoto, Sean J., Rothman, Micol S., Duan, Shenghui, Baker, Jonathan C., Mumm, Steven, Whyte, Michael P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7179970/
https://ncbi.nlm.nih.gov/pubmed/31923705
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2020.115224
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