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pro vyhledávání: '"Barbara Martin"'
Autor:
Svetlana Ghimbovschi, Virginia Kimonis, Barbara Martin, Susan Knoblach, Charles D. Smith, Jouni Vesa, Eric Dec, Shlomit Radom-Aizik, Angèle Nalbandian, Eric P. Hoffman
Publikováno v:
Nalbandian, Angele; Ghimbovschi, Svetlana; Radom-Aizik, Shlomit; Dec, Eric; Vesa, Jouni; Martin, Barbara; et al.(2012). Global gene profiling of VCP-associated inclusion body myopathy. Clinical and Translational Science, 5(3), 226-234. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/9s22d5br
Inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia (IBMPFD) is an autosomal dominant disorder caused by mutations in the Valosin‐containing protein (VCP) gene on chromosome 9p12–13. Patients demonstrate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14cdbba6ea69869e4b93eb9447b0e5c8
https://europepmc.org/articles/PMC3375869/
https://europepmc.org/articles/PMC3375869/
Publikováno v:
Journal of medical genetics. 11(3)
The clinical and cytogenetic findings of a female infant with multiple congenital anomalies and trisomy for the short arm of chromosome 4(46,XX,21p+) are described. The abnormal chromosome was inherited from the father who had a balanced translocatio