Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simple...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2012
Témata:
Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309183/
https://ncbi.nlm.nih.gov/pubmed/22387013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.01.003
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky