Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maria J. Eriksson"'
Publikováno v:
European Journal of Human Genetics. 17:928-937
Most cases of the segmental progeroid syndrome, Hutchinson-Gilford progeria syndrome (HGPS), are caused by a de novo dominant mutation within a single codon of the LMNA gene. This mutation leads to the increased usage of an internal splice site that
Autor:
Eva Schmidt, Maria J. Eriksson
Publikováno v:
BMC Research Notes
BMC Research Notes, Vol 4, Iss 1, p 282 (2011)
BMC Research Notes, Vol 4, Iss 1, p 282 (2011)
Background The tetracycline-controlled transactivator system is a powerful tool to control gene expression in vitro and to generate consistent and conditional transgenic in vivo model organisms. It has been widely used to study gene function and to e
Publikováno v:
PLoS ONE, Vol 4, Iss 1, p e4114 (2009)
PLoS ONE
PLoS ONE
Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes. These disorders include the premature aging disorders Hutchinson-Gilford progeria syndrome and mandibuloacral dysplasia, as well as res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ff26d66a7b9c15cf967cff6f11dd0d5
http://hdl.handle.net/10138/161764
http://hdl.handle.net/10138/161764